The following MEDLINE items were compiled by SilverPlatter and are presented with their generous cooperation and permission. (See SilverPlatter's Worldwide Library for bibliographic search information.)For a non-technical summary of Andermann's syndrome, try here!
>Record 1 of 54 in MEDLINE (R) 1998 Part B
TITLE: Proton magnetic resonance spectroscopic imaging in patients with extratemporal epilepsy.
AUTHOR: Stanley,-J-A; Cendes,-F; Dubeau,-F; Andermann,-F; Arnold,-D-L
ADDRESS OF AUTHOR: Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
SOURCE: Epilepsia. 1998 Mar; 39(3): 267-73
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: Reduced levels of N-acetylaspartate (NAA) in temporal lobes responsible for temporal lobe epilepsy have been observed consistently in proton magnetic resonance spectroscopy (MRS) studies. METHODS: We investigated the potential of proton MRS to detect low NAA outside of the temporal lobes in patients with non-lesional partial extratemporal epilepsy. Proton MR spectroscopic imaging (MRSI) data of both frontal lobes and central/postcentral regions were obtained in 20 such patients and 16 normal control subjects. The epileptogenic region was determined by an extensive clinical-EEG investigation, including the recording of habitual seizures in each patient, and intracranial EEG recordings in 10 patients. RESULTS: The relative NAA resonance intensities (i.e., NAA/phosphocreatine plus creatine (CR(t)), NAA/choline-containing metabolites (Cho(t)) and NAA/Cr(t) + Cho(t)), were all significantly reduced throughout the spectroscopic image as compared with that of the controls. Furthermore, reduction of the NAA ratios was greater in the epileptogenic region as compared with the nonepileptogenic regions, on EEG investigation. CONCLUSIONS: In vivo proton MRSI of patients with nonlesional partial extratemporal epilepsy detected evidence of widespread neuronal damage or dysfunction that was greatest in the region of seizure focus.
MAJOR MESH DESCRIPTORS: *Cerebral-Cortex-metabolism; *Epilepsies,-Partial-diagnosis; *Magnetic-Resonance-Spectroscopy-diagnostic-use
MINOR MESH DESCRIPTORS: Adult-; Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-metabolism; Choline-metabolism; Electrodes,-Implanted; Epilepsies,-Partial-metabolism; Epilepsy,-Frontal-Lobe-diagnosis; Epilepsy,-Frontal-Lobe-metabolism; Phosphocreatine-metabolism; Protons-
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analogs-and-derivatives; metabolism; diagnosis; diagnostic-use
CAS REGISTRY NUMBER OR EC NUMBER: 0; 56-84-8; 62-49-7; 67-07-2; 997-55-7
NAME OF SUBSTANCE: Protons; Aspartic-Acid; Choline; Phosphocreatine; N-acetylaspartate
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98237153
RECORD FEATURES: ABSTRACT (AB)
Record 2 of 54 in MEDLINE (R) 1998 Part B
TITLE: Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study.
AUTHOR: Li,-L-M; Cendes,-F; Bastos,-A-C; Andermann,-F; Dubeau,-F; Arnold,-D-L
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, and the Montreal Neurological Institute and Hospital, Quebec, Canada.
SOURCE: Neurology. 1998 Mar; 50(3): 755-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Cortical developmental malformations are best diagnosed by MRI and are often the cause of refractory epilepsy. Little is known about the metabolic cell function on MR spectroscopy of these types of brain anomaly. We studied 23 patients with cortical developmental malformations and refractory epilepsy using proton MR spectroscopic imaging. Mean age was 28 years (range, 9 to 47 years). The lesions examined were focal cortical dysplasia (n = 5), heterotopia (four band, six periventricular, two subcortical), polymicrogyria (n = 3), tuberous sclerosis (n = 2), and polymicrogyria and periventricular nodular heterotopia (n = 1). We measured the relative signal intensity of N-acetylaspartate/creatine (NAA/Cr) in the lesion, in the perilesional region, and in the region remote from the visible lesion. The values were compared with those from similar brain regions of 25 normal control subjects. The mean NAA/Cr z score values for the 23 patients were as follows: lesion, -2.20 +/- 0.32 (mean +/- SE), n = 21; perilesional region, -1.01 +/- 0.38, n = 15; and distant region, -0.03 +/- 0.34, n = 18 (p < 0.0002). Despite the presence of a large number of neurons, heterotopia showed a relative decrease of NAA in some patients, suggesting that the neurons present were dysfunctional. The maximal NAA/Cr decrease, indicating metabolic dysfunction, colocalized to the structural malformation as defined by MRI and extended to normal-appearing regions adjacent to the visible lesion.
MAJOR MESH DESCRIPTORS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-growth-and-development; *Developmental-Disabilities-metabolism; *Neurons-metabolism
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-metabolism; Brain-metabolism; Cerebral-Cortex-metabolism; Child-; Creatine-metabolism; Developmental-Disabilities-diagnosis; Developmental-Disabilities-pathology; Electroencephalography-; Magnetic-Resonance-Spectroscopy; Middle-Age; Reference-Values
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analogs-and-derivatives; metabolism; abnormalities; growth-and-development; diagnosis; pathology
CAS REGISTRY NUMBER OR EC NUMBER: 56-84-8; 57-00-1; 997-55-7
NAME OF SUBSTANCE: Aspartic-Acid; Creatine; N-acetylaspartate
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98180565
RECORD FEATURES: ABSTRACT (AB)
Record 3 of 54 in MEDLINE (R) 1998 Part B
TITLE: The significance of electrocorticographic findings in focal cortical dysplasia: a review of their clinical, electrophysiological and neurochemical characteristics.
AUTHOR: Dubeau,-F; Palmini,-A; Fish,-D; Avoli,-M; Gambardella,-A; Spreafico,-R; Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Canada.
SOURCE: Electroencephalogr-Clin-Neurophysiol-Suppl. 1998; 4877-96
INTERNATIONAL STANDARD SERIAL NUMBER: 0424-8155
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: IRELAND
MAJOR MESH DESCRIPTORS: *Cerebral-Cortex-physiopathology; *Electroencephalography-; *Epilepsies,-Partial-physiopathology
MINOR MESH DESCRIPTORS: Cerebral-Cortex-abnormalities; Cerebral-Cortex-chemistry; Epilepsies,-Partial-metabolism; Epilepsies,-Partial-pathology; Magnetic-Resonance-Imaging
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: abnormalities; chemistry; physiopathology; metabolism; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99134936
Record 4 of 54 in MEDLINE (R) 1998 Part B
TITLE: Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
AUTHOR: Minassian,-B-A; Lee,-J-R; Herbrick,-J-A; Huizenga,-J; Soder,-S; Mungall,-A-J; Dunham,-I; Gardner,-R; Fong,-C-Y; Carpenter,-S; Jardim,-L; Satishchandra,-P; Andermann,-E; Snead,-O-C; Lopes-Cendes,-I; Tsui,-L-C; Delgado-Escueta,-A-V; Rouleau,-G-A; Scherer,-S-W
ADDRESS OF AUTHOR: Department of Genetics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
SOURCE: Nat-Genet. 1998 Oct; 20(2): 171-4
INTERNATIONAL STANDARD SERIAL NUMBER: 1061-4036
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogeneous clinical course despite the existence of genetic heterogeneity. Biopsy of various tissues, including brain, revealed characteristic polyglucosan inclusions called Lafora bodies, which suggested LD might be a generalized storage disease. Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP). mRNA transcripts representing alternatively spliced forms of EPM2A were found in every tissue examined, including brain. Six distinct DNA sequence variations in EPM2A in nine families, and one homozygous microdeletion in another family, have been found to cosegregate with LD. These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.
MAJOR MESH DESCRIPTORS: *Chromosomes,-Human,-Pair-6; *Epilepsies,-Myoclonic-genetics; *Mutation-; *Protein-Tyrosine-Phosphatase-genetics
MINOR MESH DESCRIPTORS: Alternative-Splicing; Amino-Acid-Sequence; Base-Sequence; Chromosome-Mapping; Consensus-Sequence; Epilepsies,-Myoclonic-enzymology; Genotype-; Linkage-Genetics; Molecular-Sequence-Data; Pedigree-; RNA,-Messenger-metabolism
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: enzymology; genetics; metabolism
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; EC 3.1.3.48
NAME OF SUBSTANCE: EPM2A-protein; RNA,-Messenger; Protein-Tyrosine-Phosphatase
SECONDARY SOURCE IDENTIFIER: GENBANK/AF084535; GENBANK/L14849SWISSPROT/AF003534; SWISSPROT/O00633; SWISSPROT/P18031; SWISSPROT/Q13496
CONTRACT OR GRANT NUMBERS: 5P01NS21908NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98442653
RECORD FEATURES: ABSTRACT (AB)
Record 5 of 54 in MEDLINE (R) 1998 Part B
TITLE: Morphometric analysis of the temporal lobe in temporal lobe epilepsy.
AUTHOR: Lee,-J-W; Andermann,-F; Dubeau,-F; Bernasconi,-A; MacDonald,-D; Evans,-A; Reutens,-D-C
ADDRESS OF AUTHOR: McConnell Brain Imaging Center, Montreal Neurological Institute and Hospital, McGill University, PQ, Canada.
SOURCE: Epilepsia. 1998 Jul; 39(7): 727-36
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: Using high-resolution magnetic resonance imaging (MRI), we examined the temporal neocortex and the underlying white matter in patients with unilateral temporal lobe epilepsy (TLE) and in control subjects. METHODS: The images of 27 patients and 42 control subjects were registered into stereotaxic space, corrected for image intensity inhomogeneity, and automatically segmented into gray matter, white matter, and cerebrospinal fluid (CSF) over a predetermined extent of the temporal lobe. The surface between the gray matter and CSF was extracted, indices of curvature (IOC) of the surface were calculated, and a frequency histogram of the IOC was obtained. RESULTS: There was significant bilateral reduction in the total volume of the temporal lobe and in the volume of gray matter. White matter volume was significantly reduced only in the temporal lobe ipsilateral to the seizure focus. There were significant changes in the position and amplitude of peaks in the frequency histogram of the IOC. CONCLUSIONS: The volume of gray matter was negatively correlated with duration of epilepsy, suggesting that neocortical changes may be a consequence of seizures. Changes in the frequency histogram of the IOC suggested an additional alteration in the surface morphology of the temporal lobe in TLE, possibly related to sulcal widening.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-diagnosis; *Magnetic-Resonance-Imaging-statistics-and-numerical-data; *Temporal-Lobe-anatomy-and-histology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Algorithms-; Analysis-of-Variance; Brain-anatomy-and-histology; Cerebrospinal-Fluid; Child-; Epilepsy,-Temporal-Lobe-pathology; Epilepsy,-Temporal-Lobe-physiopathology; Laterality-physiology; Middle-Age; Neocortex-pathology; Neocortex-physiopathology; Seizures,-Febrile-diagnosis; Temporal-Lobe-pathology; Temporal-Lobe-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: anatomy-and-histology; diagnosis; pathology; physiopathology; physiology; statistics-and-numerical-data
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98333976
RECORD FEATURES: ABSTRACT (AB)
Record 6 of 54 in MEDLINE (R) 1998 Part B
TITLE: Nocturnal temporal lobe epilepsy.
AUTHOR: Bernasconi,-A; Andermann,-F; Cendes,-F; Dubeau,-F; Andermann,-E; Olivier,-A
ADDRESS OF AUTHOR: Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
SOURCE: Neurology. 1998 Jun; 50(6): 1772-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To analyze clinical, electrophysiologic, and neuroradiologic characteristics and prognostic factors in a group of patients with temporal lobe epilepsy (TLE) and complex partial seizures (CPS) occurring exclusively or predominantly after they fall asleep or before they awaken. BACKGROUND: CPS arising during sleep are classically identified with frontal lobe epilepsy. TLE associated with seizures occurring only or predominantly during sleep (nocturnal TLE) is less common. METHODS: From a series of patients with refractory TLE studied between 1980 and 1996, the authors identified 26 patients (15 men) with nonlesional nocturnal TLE (mean age, 40 years). Clinical and laboratory characteristics of these individuals were studied and compared with a group of 72 age-matched, randomly selected patients with nonlesional TLE and predominantly diurnal seizures (diurnal TLE). RESULTS: Mean age at seizure onset was similar for both groups (16.3 versus 18.7 years). In the nocturnal TLE group, 2 of 26 patients had a positive family history of epilepsy, 18 reported an aura, 4 presented with CPS in clusters, 11 had unilateral and 15 bilateral temporal EEG abnormalities, and 14 of 21 studied had unilateral mesial temporal atrophy. None of these factors differed significantly in the two groups except for higher frequency of the following in the diurnal TLE group compared with the nocturnal TLE group: positive family history for epilepsy (33% versus 8%, p=0.01), estimated frequency of seizures (median, 14 versus 2 per month; p < 0.01), and presence of antecedent febrile convulsions (33% versus 11%, p=0.04). In the nocturnal TLE group, eight patients underwent surgical therapy and became seizure free (follow-up, > 12 months). Only two were seizure free on medication. CONCLUSIONS: Infrequent and nonclustered seizures, rare family history of epilepsy, and low prevalence of childhood febrile convulsions characterize nocturnal TLE. Within the TLEs, the nocturnal TLE form seems to have a better surgical prognosis.
MAJOR MESH DESCRIPTORS: *Circadian-Rhythm-physiology; *Epilepsy,-Temporal-Lobe-physiopathology
MINOR MESH DESCRIPTORS: Adult-; Electroencephalography-; Epilepsy,-Temporal-Lobe-diagnosis; Epilepsy,-Temporal-Lobe-surgery; Incidence-; Magnetic-Resonance-Imaging; Middle-Age; Prevalence-; Seizures,-Febrile-epidemiology; Treatment-Outcome
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: physiology; diagnosis; physiopathology; surgery; epidemiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98295483
RECORD FEATURES: ABSTRACT (AB)
Record 7 of 54 in MEDLINE (R) 1998 Part B
TITLE: Familial temporal lobe epilepsy: a clinically heterogeneous syndrome.
AUTHOR: Cendes,-F; Lopes-Cendes,-I; Andermann,-E; Andermann,-F
ADDRESS OF AUTHOR: Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
SOURCE: Neurology. 1998 Feb; 50(2): 554-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe the clinical characteristics of a group of patients with familial temporal lobe epilepsy (TLE) in 11 kindreds with 36 affected individuals identified and investigated at the Montreal Neurological Hospital. Seizure types were simple partial (n = 20), complex partial (n = 29), and rare generalized tonic-clonic. Simple and complex partial seizures were infrequent or well controlled by anticonvulsant medication in 17 of 29 patients (59%) and without optimal response to medical therapy in 12 of 29 patients (41%). Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance. The syndrome of familial TLE has heterogeneous clinical manifestations and is not always benign.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-genetics
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-of-Onset; Anticonvulsants-therapeutic-use; Child-; Epilepsies,-Partial-genetics; Epilepsies,-Partial-physiopathology; Epilepsy,-Complex-Partial-genetics; Epilepsy,-Complex-Partial-physiopathology; Epilepsy,-Temporal-Lobe-drug-therapy; Epilepsy,-Temporal-Lobe-physiopathology; Epilepsy,-Tonic-Clonic-genetics; Epilepsy,-Tonic-Clonic-physiopathology; Middle-Age; Pedigree-; Syndrome-
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: therapeutic-use; genetics; physiopathology; drug-therapy
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Anticonvulsants
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98145393
RECORD FEATURES: ABSTRACT (AB)
Record 8 of 54 in MEDLINE (R) 1998 Part B
TITLE: Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.
AUTHOR: Macmillan,-C; Kirkham,-T; Fu,-K; Allison,-V; Andermann,-E; Chitayat,-D; Fortier,-D; Gans,-M; Hare,-H; Quercia,-N; Zackon,-D; Shoubridge,-E-A
ADDRESS OF AUTHOR: Montreal Neurological Institute, Quebec, Canada.
SOURCE: Neurology. 1998 Feb; 50(2): 417-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We analyzed the clinical phenotype and determined the recurrence risks to relatives of patients with T14484C Leber's hereditary optic neuropathy (LHON). LHON is a maternally inherited optic neuropathy that primarily affects adolescent males. It is usually associated with one of three mtDNA mutations: G3460A, G11778A, or T14484C. Definition of recurrence risks for the T14484C mutation previously has not been possible due to the relative scarcity of families with this mutation. We obtained blood samples from index patients and their consenting family members, all of whom were of French Canadian ancestry and screened for LHON mutations in mtDNA. Referring ophthalmologists furnished clinical summaries and patients provided pedigree data. T14484C was the most common mutation in the pedigrees analyzed and was always homoplasmic. In these pedigrees, the ratio of affected males to females was 8:1. Median age at onset for males was 19 years (95th percentile, 40.8 years; range, 6 to 48 years). Some improvement of vision was observed in 58% of patients. Recurrence risks to brothers were 28%, sisters 5%, nephews 30%, nieces 3%, male matrilineal first cousins 19%, and female matrilineal first cousins 4%. Recurrence risks to brothers and nephews were not different; however, recurrence risks to brothers and male cousins and to nephews and male cousins were significantly different. There were no differences in recurrence risks to sisters and nieces or to either group compared with their female cousins. Affected females did not have more affected children than unaffected females. The clinical characteristics of French Canadian patients with T14484C LHON were strikingly similar to those in previous reports, suggesting that recurrence risks are generalizable to other T14484C LHON populations for genetic counseling of T14484C LHON families.
MAJOR MESH DESCRIPTORS: *Optic-Atrophies,-Hereditary-genetics; *Point-Mutation
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-of-Onset; Canada-; Child-; France-ethnology; Middle-Age; Optic-Atrophies,-Hereditary-epidemiology; Optic-Atrophies,-Hereditary-physiopathology; Pedigree-; Phenotype-; Recurrence-; Risk-Factors; Sex-Characteristics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: ethnology; epidemiology; genetics; physiopathology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98145359
RECORD FEATURES: ABSTRACT (AB)
Record 9 of 54 in MEDLINE (R) 1998 Part B
TITLE: Cortical dysplasia: an immunocytochemical study of three patients.
AUTHOR: Spreafico,-R; Battaglia,-G; Arcelli,-P; Andermann,-F; Dubeau,-F; Palmini,-A; Olivier,-A; Villemure,-J-G; Tampieri,-D; Avanzini,-G; Avoli,-M
ADDRESS OF AUTHOR: Istituto Nazionale Neurologico C. Besta, Department of Experimental Neurophysiology and Epileptology, Milano, Italy.
SOURCE: Neurology. 1998 Jan; 50(1): 27-36
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Human cortical dysplastic lesions are frequently associated with severe partial epilepsies. We report an immunocytochemical investigation on cortical tissue from three surgically treated patients, 20, 38, and 14 years old, with intractable epilepsy due to cortical dysplasia. The studies were performed using antibodies recognizing cytoskeletal proteins, calcium-binding proteins, and some subunits of glutamate receptors. The specimens from the three patients displayed common features: (1) focal cytoarchitectural abnormalities with an increased number of giant pyramidal neurons through all cortical layers except layer I; (2) large, round-shaped balloon cells mainly concentrated in the deepest part of the cortex and in the white matter; (3) a decrease of calcium binding protein immunopositive gamma-aminobutyric acid (GABA)ergic neurons; and (4) abnormal baskets of parvalbumin-positive terminals around the excitatory (pyramidal and large, round-shaped) neurons. These data provide evidence that the epileptogenicity in these types of cortical dysplasia is due to an increase in excitatory neurons coupled with a decrease in GABAergic interneurons.
COMMENTS: Comment In: Neurology. 1998 Jan;50(1):8-10
MAJOR MESH DESCRIPTORS: *Brain-Chemistry; *Cerebral-Cortex-pathology; *Epilepsies,-Partial-pathology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Calcium-Binding-Protein,-Vitamin-D-Dependent-analysis; Epilepsies,-Partial-diagnosis; Epilepsies,-Partial-surgery; GABA-analysis; Immunohistochemistry-; Interneurons-chemistry; Interneurons-pathology; Magnetic-Resonance-Imaging; Microtubule-Associated-Proteins-analysis; Nerve-Tissue-Proteins-analysis; Parvalbumins-analysis; Pyramidal-Cells-chemistry; Pyramidal-Cells-pathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analysis; pathology; diagnosis; surgery; chemistry
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 0; 56-12-2
NAME OF SUBSTANCE: Calcium-Binding-Protein,-Vitamin-D-Dependent; Microtubule-Associated-Proteins; Nerve-Tissue-Proteins; Parvalbumins; calbindin; calretinin; GABA
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98103690
RECORD FEATURES: ABSTRACT (AB)
Record 10 of 54 in MEDLINE (R) 1998 Part B
TITLE: Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.
AUTHOR: Siegel,-A-M; Andermann,-F; Badhwar,-A; Rouleau,-G-A; Dam,-M; Hopf,-H-C; Dichgans,-J; Sturzenegger,-M; Hopf,-N-J; Yasui,-N; Stepper,-F; Killer,-M; Vanneste,-J-A; Acciarri,-N; Drigo,-P; Christensen,-J; Braun,-V; Konu,-D; Andermann,-E
ADDRESS OF AUTHOR: Dartmouth College, Neurology, Hanover, New Hampshire, USA.
SOURCE: Acta-Neurol-Scand. 1998 Dec; 98(6): 372-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6314
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: OBJECTIVES: Anticipation has been linked to unstable trinucleotide repeats in many neurological disorders. We examined the hypothesis of genetic anticipation in familial cavernous angioma (FCA) of the central nervous system. MATERIAL AND METHODS: The mean ASO of affected individuals was compared between successive generations in 55 families. Intergenerational pair-wise comparisons were employed to avoid several ascertainment biases. Regarding severity of disease both type of manifestation and number of cavernous angiomas were compared between generations. RESULTS: The mean ASO decreased significantly both from the first to the second generation (31.6 vs 17.8 years; P = 0.000) and from the second to the third generation (17.8 vs 6.7 years; P = 0.002). The pair-wise comparisons also showed significantly earlier ASO. No clear evidence for anticipation with regard to severity of disease was found. CONCLUSIONS: Molecular genetic studies will determine whether trinucleotide repeats are the underlying mechanism for our observation of anticipation in FCA.
COMMENTS: Comment In: Acta Neurol Scand. 1998 Dec;98(6):369-71
MAJOR MESH DESCRIPTORS: *Anticipation,-Genetic; *Central-Nervous-System-Neoplasms-epidemiology; *Central-Nervous-System-Neoplasms-genetics; *Hemangioma,-Cavernous-epidemiology; *Hemangioma,-Cavernous-genetics
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-of-Onset; Bias-Epidemiology; Child-
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: epidemiology; genetics
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99090791
RECORD FEATURES: ABSTRACT (AB)
Record 11 of 54 in MEDLINE (R) 1998 Part B
TITLE: Anticipation in familial cavernous angioma: a study of 52 families from International Familial Cavernous Angioma Study. IFCAS Group.
AUTHOR: Siegel,-A-M; Andermann,-E; Badhwar,-A; Rouleau,-G-A; Wolford,-G-L; Andermann,-F; Hess,-K
SOURCE: Lancet. 1998 Nov 21; 352(9141): 1676-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0140-6736
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
MAJOR MESH DESCRIPTORS: *Anticipation,-Genetic; *Central-Nervous-System-Neoplasms-genetics; *Hemangioma,-Cavernous-genetics
MINOR MESH DESCRIPTORS: Adult-; Age-of-Onset; Chromosomes,-Human,-Pair-7-genetics; Follow-Up-Studies; Pedigree-; Severity-of-Illness-Index
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Letter
SUBHEADINGS: genetics
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99068332
Record 12 of 54 in MEDLINE (R) 1998 Part B
TITLE: Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
AUTHOR: Phillips,-H-A; Scheffer,-I-E; Crossland,-K-M; Bhatia,-K-P; Fish,-D-R; Marsden,-C-D; Howell,-S-J; Stephenson,-J-B; Tolmie,-J; Plazzi,-G; Eeg-Olofsson,-O; Singh,-R; Lopes-Cendes,-I; Andermann,-E; Andermann,-F; Berkovic,-S-F; Mulley,-J-C
ADDRESS OF AUTHOR: Department of Cytogenetics, Women's and Children's Hospital, North Adelaide, South Australia.
SOURCE: Am-J-Hum-Genet. 1998 Oct; 63(4): 1108-16
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a recently identified partial epilepsy in which two different mutations have been described in the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4). An additional seven families are presented in which ADNFLE is unlinked to the CHRNA4 region on chromosome 20q13.2. Seven additional sporadic cases showed no evidence of defective CHRNA4. One of the families showed evidence of linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster (maximum LOD score of 3.01 with D15S152). Recombination between ADNFLE and CHRNA4, linkage to 15q24 in one family, and exclusion from 15q24 and 20q13.2 in others demonstrate genetic heterogeneity with at least three different genes for ADNFLE. The CHRNA4 gene and the two known CHRNA4 mutations are responsible for only a minority of ADNFLE. Although the ADNFLE phenotype is clinically homogeneous, there appear to be a variety of molecular defects responsible for this disorder, which will provide a challenge to the understanding of the basic mechanism of epileptogenesis.
MAJOR MESH DESCRIPTORS: *Chromosomes,-Human,-Pair-15; *Epilepsy,-Frontal-Lobe-genetics; *Genetic-Heterogeneity
MINOR MESH DESCRIPTORS: Chromosome-Mapping; Genes,-Dominant; Genetic-Markers; Lod-Score; Molecular-Sequence-Data; Mutation-; Periodicity-; Receptors,-Nicotinic-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Genetic-Markers; Receptors,-Nicotinic
SECONDARY SOURCE IDENTIFIER: GENBANK/M83712; GENBANK/U62433; GENBANK/X07348; GENBANK/X07349; GENBANK/X07350; GENBANK/X07351; GENBANK/X07352; GENBANK/X07399; GENBANK/X68275
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98431796
RECORD FEATURES: ABSTRACT (AB)
Record 13 of 54 in MEDLINE (R) 1998 Part B
TITLE: Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients.
AUTHOR: Guerreiro,-M-M; Andermann,-F; Andermann,-E; Palmini,-A; Hwang,-P; Hoffman,-H-J; Otsubo,-H; Bastos,-A; Dubeau,-F; Snipes,-G-J; Olivier,-A; Rasmussen,-T
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, and Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
SOURCE: Neurology. 1998 Nov; 51(5): 1263-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Seizures in patients with tuberous sclerosis complex (TSC) are often intractable to antiepileptic medications and searching investigation may provide evidence that surgical treatment can be considered. OBJECTIVE: To review the results of investigation and surgical therapy, a treatment modality not generally considered in patients with medically refractory seizures and TSC. METHODS: We report 18 patients (9 male) with TSC who underwent surgical treatment of medically refractory epilepsy. Twelve patients had a well-localized epileptogenic lesion and were treated by lesionectomy or focal resection. Resections were: 7 frontal, 4 temporal, 1 frontotemporal, 1 occipital, and 1 frontoparietal. Four patients underwent more than one operation. Six patients had corpus callosotomy (CC). RESULTS: Follow-up ranged from 1 month to 47 years. Outcome of the patients treated by resection was excellent in 7 (5 were seizure-free and 2 had auras only), good in 1, fair in 3, and 1 was lost to follow-up. Best outcome was obtained in patients who had focal seizures and good imaging and EEG correlation, although they might have multiple seizure types, other imaging abnormalities, and multifocal or generalized EEG findings. When there was no such correlation, CC was found to be an option as five patients had at least some improvement and only one showed no change. CONCLUSION: Surgical treatment of patients with TSC and intractable epilepsy is most effective when a single tuber or epileptogenic area can be identified as the source of seizures and resected. This may be possible even when other tubers or diffuse EEG abnormalities are present. In patients with unlocalizable epileptic abnormalities, palliation may be obtained by CC.
MAJOR MESH DESCRIPTORS: *Epilepsy-complications; *Epilepsy-surgery; *Tuberous-Sclerosis-complications; *Tuberous-Sclerosis-surgery
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-of-Onset; Brain-pathology; Child-; Child,-Preschool; Electroencephalography-; Follow-Up-Studies; Infant-; Magnetic-Resonance-Imaging; Middle-Age; Reoperation-; Retrospective-Studies; Time-Factors; Treatment-Outcome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; complications; surgery
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99034152
RECORD FEATURES: ABSTRACT (AB)
Record 14 of 54 in MEDLINE (R) 1998 Part B
TITLE: Case study: neurological brain waves causing serious behavioral brainstorms.
AUTHOR: Manford,-M; Cvejic,-H; Minde,-K; Andermann,-F; Taylor,-L; Savard,-G
ADDRESS OF AUTHOR: Department of Clinical Neurology, Addenbrooke's Hospital, Cambridge, England.
SOURCE: J-Am-Acad-Child-Adolesc-Psychiatry. 1998 Oct; 37(10): 1085-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0890-8567
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A case highlighting the association of epilepsy with psychopathology is reported. The patient suffered a rare and extreme behavioral disturbance, characterized by persistent disruptive behavior and intermittent bizarre and violent outbursts. These outbursts often appeared purposeful, but some of them were later diagnosed as ictal manifestations of temporal lobe epilepsy. Temporal lobectomy resulted in remission both of the epilepsy and of the more persistent behavioral disturbance. lctal behavioral change was masked by interictal behavioral disturbance, leading to delayed diagnosis and prolonged psychosocial dysfunction. It is important to record the paroxysmal abnormal behavior with simultaneous electroencephalographic recording if there is a suspicion of organic disease. Physical and psychosocial factors in the relationship between epilepsy and extreme psychiatric disturbance are considered. This case demonstrates how successful epilepsy treatment may produce amelioration of associated psychiatric disturbance.
MAJOR MESH DESCRIPTORS: *Attention-Deficit-and-Disruptive-Behavior-Disorders-diagnosis; *Electroencephalography-; *Epilepsy,-Temporal-Lobe-diagnosis
MINOR MESH DESCRIPTORS: Attention-Deficit-and-Disruptive-Behavior-Disorders-physiopathology; Attention-Deficit-and-Disruptive-Behavior-Disorders-psychology; Brain-Mapping; Child-; Diagnosis,-Differential; Epilepsy,-Temporal-Lobe-physiopathology; Epilepsy,-Temporal-Lobe-psychology; Family-Relations; Sick-Role; Violence-psychology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; physiopathology; psychology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99001899
RECORD FEATURES: ABSTRACT (AB)
Record 15 of 54 in MEDLINE (R) 1998 Part B
TITLE: Hypothalamic hamartomas and gelastic epilepsy: a spectroscopic study.
AUTHOR: Tasch,-E; Cendes,-F; Li,-L-M; Dubeau,-F; Montes,-J; Rosenblatt,-B; Andermann,-F; Arnold,-D
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Hospital and Institute, Quebec, Canada.
SOURCE: Neurology. 1998 Oct; 51(4): 1046-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Patients with hypothalamic hamartomas present with epileptic attacks of laughter and later experience multiple seizure types and cognitive decline, suggestive of secondary generalized epilepsy. It has been suggested in the past that gelastic seizures originate in the temporal lobes rather than in the hamartoma, but temporal resections have been ineffective. Recent electrophysiologic evidence suggests that the epileptogenic discharges may originate in the hamartoma itself. METHODS: We used proton magnetic resonance spectroscopic imaging to quantify the amount of neuronal damage in the temporal lobes and hamartomas of patients with hypothalamic hamartomas and gelastic seizures. Five patients were studied and the relative intensity of N-acetylaspartate to creatine (NAA/Cr) was determined for both temporal lobes as well as for the hamartoma. These values were compared with signals from the temporal lobes and hypothalami of normal control subjects. RESULTS: NAA/Cr was not significantly different from normal control subjects for either temporal lobe, nor was there a significant asymmetry between the two temporal lobes for any of the patients. NAA resonance signals were present in the hamartomas, and the ratio of NAA to Cr was decreased in the hamartomas compared with the hypothalami of normal control subjects (t = 4.5, p = 0.005). CONCLUSIONS: We found no detectable neuronal damage in the temporal lobes of patients with hypothalamic hamartomas and gelastic epilepsy. This is further evidence that gelastic seizures do not originate in the temporal lobes of these patients.
MAJOR MESH DESCRIPTORS: *Epilepsy-radionuclide-imaging; *Hamartoma-radionuclide-imaging; *Hypothalamic-Diseases-radionuclide-imaging; *Laughter-physiology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Child-; Electroencephalography-; Epilepsy-etiology; Epilepsy-physiopathology; Hamartoma-complications; Hamartoma-physiopathology; Hypothalamic-Diseases-complications; Hypothalamic-Diseases-physiopathology; Hypothalamus-; Magnetic-Resonance-Imaging-methods; Tomography,-Emission-Computed,-Single-Photon
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: etiology; physiopathology; radionuclide-imaging; complications; physiology; methods
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98452787
RECORD FEATURES: ABSTRACT (AB)
Record 16 of 54 in MEDLINE (R) 1998 Part B
TITLE: Complex visual hallucinations. Clinical and neurobiological insights.
AUTHOR: Manford,-M; Andermann,-F
ADDRESS OF AUTHOR: Department of Clinical Neurology, Addenbrooke's Hospital, Cambridge, UK. Markmanford@gransden.prestel.co.uk
SOURCE: Brain. 1998 Oct; 121 ( Pt 10)1819-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8950
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Complex visual hallucinations may affect some normal individuals on going to sleep and are also seen in pathological states, often in association with a sleep disturbance. The content of these hallucinations is striking and relatively stereotyped, often involving animals and human figures in bright colours and dramatic settings. Conditions causing these hallucinations include narcolepsy-cataplexy syndrome, peduncular hallucinosis, treated idiopathic Parkinson's disease, Lewy body dementia without treatment, migraine coma, Charles Bonnet syndrome (visual hallucinations of the blind), schizophrenia, hallucinogen-induced states and epilepsy. We describe cases of hallucinosis due to several of these causes and expand on previous hypotheses to suggest three mechanisms underlying complex visual hallucinations. (i) Epileptic hallucinations are probably due to a direct irritative process acting on cortical centres integrating complex visual information. (ii) Visual pathway lesions cause defective visual input and may result in hallucinations from defective visual processing or an abnormal cortical release phenomenon. (iii) Brainstem lesions appear to affect ascending cholinergic and serotonergic pathways, and may also be implicated in Parkinson's disease. These brainstem abnormalities are often associated with disturbances of sleep. We discuss how these lesions, outside the primary visual system, may cause defective modulation of thalamocortical relationships leading to a release phenomenon. We suggest that perturbation of a distributed matrix may explain the production of similar, complex mental phenomena by relatively blunt insults at disparate sites.
MAJOR MESH DESCRIPTORS: *Hallucinations-physiopathology; *Visual-Pathways-physiopathology
MINOR MESH DESCRIPTORS: Brain-Diseases-physiopathology; Hallucinations-chemically-induced; Schizophrenia-physiopathology; Sleep,-REM-physiology; Vision-Disorders-physiopathology
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: physiopathology; chemically-induced; physiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 99013084
RECORD FEATURES: ABSTRACT (AB)
Record 17 of 54 in MEDLINE (R) 1998 Part A
TITLE: Spectroscopic imaging of frontal neuronal dysfunction in hyperekplexia.
AUTHOR: Bernasconi,-A; Cendes,-F; Shoubridge,-E-A; Andermann,-E; Li,-L-M; Arnold,-D-L; Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University and Montreal Neurological Institute and Hospital, Quebec, Canada.
SOURCE: Brain. 1998 Aug; 121 ( Pt 8)1507-12
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8950
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We used proton magnetic resonance spectroscopic imaging (MRSI) to assess in vivo cortical neuronal involvement in hyperekplexia. Cerebral neuronal function was measured using proton MRSI in four unrelated patients with hyperekplexia and 20 healthy controls. All patients had the major form of hyperekplexia, with additional atypical clinical features in two of them. Family history was positive in three patients and absent in one. The neuronal marker N-acetylaspartate (NAA), choline-containing compounds (Cho) and creatine (Cr) were measured in frontal, central and parietal areas. The MRSI showed a reduction of the relative resonance intensity of NAA/(Cr + Cho) in frontal and central regions in three patients, and in the right frontal region of the fourth. In one patient a second MRSI showed normal relative NAA resonance intensities over both temporal lobes as well as in the brainstem. In two subjects the topography of EEG abnormalities in the frontal lobes coincided with the MRSI findings. This proton MRSI study indicates the presence of frontal neuronal dysfunction in hyperekplexia. Whether this represents cortical dysfunction or an epiphenomenon of diencephalic or brainstem abnormalities remains open. However, the observation of normal proton MRSI in the temporal regions and brainstem in one of the patients seems to concur with the hypothesis of a facilitatory role of cortical dysfunction within areas of sensorimotor representation in the generation of the pathological startle reaction in hyperekplexia.
MAJOR MESH DESCRIPTORS: *Frontal-Lobe-physiopathology; *Muscle-Rigidity-physiopathology; *Nervous-System-Diseases-diagnosis; *Nervous-System-Diseases-physiopathology; *Neurons-physiology; *Reflex,-Abnormal-physiology; *Startle-Reaction-physiology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-metabolism; Brain-metabolism; Choline-metabolism; Creatine-metabolism; Frontal-Lobe-pathology; Magnetic-Resonance-Imaging; Nervous-System-Diseases-pathology; Reference-Values
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analogs-and-derivatives; metabolism; pathology; physiopathology; diagnosis; physiology
CAS REGISTRY NUMBER OR EC NUMBER: 56-84-8; 57-00-1; 62-49-7; 997-55-7
NAME OF SUBSTANCE: Aspartic-Acid; Creatine; Choline; N-acetylaspartate
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98375830
RECORD FEATURES: ABSTRACT (AB)
Record 18 of 54 in MEDLINE (R) 1998 Part A
TITLE: Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
AUTHOR: Sossey-Alaoui,-K; Hartung,-A-J; Guerrini,-R; Manchester,-D-K; Posar,-A; Puche-Mira,-A; Andermann,-E; Dobyns,-W-B; Srivastava,-A-K
ADDRESS OF AUTHOR: J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.
SOURCE: Hum-Mol-Genet. 1998 Aug; 7(8): 1327-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Subcortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migration which causes mental retardation and epilepsy. A single LIS/SBH locus on Xq22.3-q24 was mapped by linkage analysis and physical mapping of the breakpoint in an X;2 translocation. A recently identified gene, doublecortin ( DCX ), is expressed in fetal brain and mutated in LIS/SBH patients. We have identified four novel missense mutations in the gene, one familial mutation with LIS in a male and SBH in the carrier females, one de novo mutation in an SBH female, and two mutations in sporadic SBH female patients. The DCX gene is found to be expressed exclusively at a very high level in the adult frontal lobe. We have also cloned the X-linked mouse doublecortin (Dcx) gene. It encodes isoforms of a highly hydrophilic 40 kDa protein, homologous to its human counterpart and containing several potential phosphorylation sites. Both human and mouse DCX proteins are homologous to a CNS protein containing a Ca2+/calmodulin kinase domain, suggesting that the DCX protein may belong to a novel class of intracellular proteins involved in neuronal migration through Ca2+-dependent signaling.
MAJOR MESH DESCRIPTORS: *Cell-Movement-genetics; *Epilepsy-genetics; *Mental-Retardation-genetics; *Neurons-pathology; *Neuropeptides-genetics; *X-Chromosome
MINOR MESH DESCRIPTORS: Adult-; Amino-Acid-Sequence; Calcium-metabolism; Epilepsy-metabolism; Epilepsy-pathology; Linkage-Genetics; Mental-Retardation-metabolism; Mental-Retardation-pathology; Mice-; Molecular-Sequence-Data; Sequence-Homology,-Amino-Acid; Signal-Transduction-genetics
CHECKTAGS: Animal; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: metabolism; genetics; pathology
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 7440-70-2
NAME OF SUBSTANCE: Neuropeptides; doublecortin-protein; Calcium
SECONDARY SOURCE IDENTIFIER: GENBANK/AF040254; GENBANK/AF040255; GENBANK/AF045547
CONTRACT OR GRANT NUMBERS: R01NS35515NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98334553
RECORD FEATURES: ABSTRACT (AB)
Record 19 of 54 in MEDLINE (R) 1998 Part A
TITLE: Treatment of absence status in the Lennox-Gastaut syndrome with propofol.
AUTHOR: Crouteau,-D; Shevell,-M; Rosenblatt,-B; Dilenge,-M-E; Andermann,-F
ADDRESS OF AUTHOR: Division of Neurology, Montreal Neurological Hospital, Quebec, Canada.
SOURCE: Neurology. 1998 Jul; 51(1): 315-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Epilepsy,-Absence-drug-therapy; *Propofol-administration-and-dosage; *Sedatives,-Nonbarbiturate-administration-and-dosage; *Status-Epilepticus-drug-therapy
MINOR MESH DESCRIPTORS: Child-; Electroencephalography-; Epilepsy,-Absence-diagnosis; Fetal-Growth-Retardation-complications; Mental-Retardation-complications; Status-Epilepticus-diagnosis
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; drug-therapy; complications; administration-and-dosage
CAS REGISTRY NUMBER OR EC NUMBER: 0; 2078-54-8
NAME OF SUBSTANCE: Sedatives,-Nonbarbiturate; Propofol
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98337591
Record 20 of 54 in MEDLINE (R) 1998 Part A
TITLE: Continuous unilateral epileptiform discharge and language delay: effect of functional hemispherectomy on language acquisition.
AUTHOR: Rosenblatt,-B; Vernet,-O; Montes,-J-L; Andermann,-F; Schwartz,-S; Taylor,-L-B; Villemure,-J-G; Farmer,-J-P
ADDRESS OF AUTHOR: Division of Neurology, the Montreal Children's Hospital, Quebec, Canada.
SOURCE: Epilepsia. 1998 Jul; 39(7): 787-92
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: To assess the efficacy of functional hemispherectomy in promoting language acquisition in a child with severe language delay and continuous left hemispheric epileptiform discharge in the absence of clinical seizures. We report a 6-month-old girl who initially presented with a right hemiparesis secondary to a lesion of probable prenatal origin in the distribution of the left middle cerebral artery. Weeks later, she developed infantile spasms. At 1.5 years of age, because of intractable seizures, the patient had fenestration of the left porencephalic cyst and anterior temporal lobectomy. The seizures ceased; however, language development remained limited to 35 words at 3.5 years of age. The EEG showed almost continuous epileptiform activity over the left hemisphere with no independent epileptiform potentials contralaterally. She underwent a functional left hemispherectomy. METHODS: Imaging, electroencephalographic investigation, pre- and postoperative psychological and speech assessment were carried out. RESULTS: Considerable language, speech, and behavior improvement was noted within 2 months of surgery. CONCLUSIONS: Interictal epileptiform discharges can interfere with the development of contralateral hemispheric function in the absence of clinical seizures. Early functional hemispherectomy may have a role in promoting optimal language development in appropriately selected patients. Although the primary indication for functional hemispherectomy is to control intractable seizures, a secondary proposed indication is to reduce functional impairment of the other hemisphere by electrical interference.
MAJOR MESH DESCRIPTORS: *Brain-surgery; *Epilepsy-surgery; *Language-Development-Disorders-surgery; *Laterality-physiology
MINOR MESH DESCRIPTORS: Brain-physiopathology; Brain-Diseases-surgery; Child,-Preschool; Cysts-surgery; Electroencephalography-; Epilepsy-diagnosis; Epilepsy-physiopathology; Infant-; Language-Development-Disorders-physiopathology; Temporal-Lobe-surgery; Tomography,-X-Ray-Computed; Treatment-Outcome
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: physiopathology; surgery; diagnosis; physiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98333983
RECORD FEATURES: ABSTRACT (AB)
Record 21 of 54 in MEDLINE (R) 1998 Part A
TITLE: Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia.
AUTHOR: Miller,-S-P; Shevell,-M; Rosenblatt,-B; Silver,-K; O'Gorman,-A; Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada.
SOURCE: Neurology. 1998 Jun; 50(6): 1866-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report three children with pure congenital hemiplegia found to have congenital bilateral perisylvian polymicrogyria (CBPP). None of our patients had the seizures, oromotor dysfunction, or cognitive impairment usually associated with CBPP. CBPP may be more common and heterogeneous than previously thought, is easily recognized by MRI, and should be included in the differential diagnosis of the young child presenting with congenital hemiplegia.
MAJOR MESH DESCRIPTORS: *Cerebral-Aqueduct-abnormalities; *Hemiplegia-congenital; *Hemiplegia-etiology
MINOR MESH DESCRIPTORS: Child,-Preschool; Diagnosis,-Differential; Hemiplegia-diagnosis; Infant-; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; congenital; diagnosis; etiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98295502
RECORD FEATURES: ABSTRACT (AB)
Record 22 of 54 in MEDLINE (R) 1998 Part A
TITLE: The benign occipital epilepsies of childhood: an overview of the idiopathic syndromes and of the relationship to migraine.
AUTHOR: Andermann,-F; Zifkin,-B
ADDRESS OF AUTHOR: Department of Neurology, McGill University, Montreal Neurological Hospital and Institute, Quebec, Canada.
SOURCE: Epilepsia. 1998; 39 Suppl 4S9-23
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Benign occipital epilepsy of childhood is an idiopathic partial epilepsy syndrome with elementary visual symptomatology, frequently associated with other ictal phenomena. Seizures are usually followed by postictal headache and are often associated with interictal occipital rhythmic paroxysmal EEG activity that appears only after eye closure. In some children the ictal visual symptoms or the interictal EEG abnormalities may not be demonstrated. The clinical and/or EEG manifestations of other forms of idiopathic partial or generalized epilepsy may be found in association. Occipital spikes in non-epileptic children with defective vision, occipital slow spike-and-wave found in some patients with the Lennox-Gastaut syndrome, focal epilepsy due to occipital lesions, seizures originating in the temporal lobe secondary to an occipital abnormality, and complicated or basilar migraine must be considered in the differential diagnosis. Early-onset benign occipital epilepsy or seizure susceptibility syndrome deserves to be considered separately. It has been defined by Panayiotopoulos as consisting of brief, infrequent attacks or prolonged status epilepticus and characterized by ictal deviation of the eyes and/or head and vomiting, occurring in children usually between the ages of 3 and 7 years. Advances in molecular genetics will help decide whether these two disorders are indeed distinct. Benign occipital and benign rolandic epilepsy are commonly associated with migraine. The selective involvement of the occipital lobe in migraine has not been fully explained. The association between benign occipital epilepsy and migraine is likely related to this underlying mechanism as well. The "fixation off" phenomenon or blocking of occipital epileptic discharges by eye opening is not specific to benign occipital epilepsy of childhood and may be found in symptomatic epilepsies as well. Migraine and epilepsy are distinct disorders, both as far as their pathophysiologic mechanisms and clinical symptomatology are concerned. There is however an overlap in some patients and a causal relationship may exist in some, leading to clinically distinct migraine epilepsy syndromes. Here too, clarification of the molecular basis of migraine and of epilepsy will throw light on the nature of the relationship between the two conditions.
COMMENTS: Comment In: Epilepsia. 1999 Sep;40(9):1320-3
MAJOR MESH DESCRIPTORS: *Epilepsy-diagnosis; *Migraine-diagnosis; *Occipital-Lobe-physiopathology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-Factors; Child-; Electroencephalography-; Epilepsy-physiopathology; Migraine-physiopathology; Prognosis-; Syndrome-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: diagnosis; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98299702
RECORD FEATURES: ABSTRACT (AB)
Record 23 of 54 in MEDLINE (R) 1998 Part A
TITLE: Familial alternating epilepsia partialis continua with chronic encephalitis: another variant of Rasmussen syndrome?
AUTHOR: Silver,-K; Andermann,-F; Meagher-Villemure,-K
ADDRESS OF AUTHOR: Department of Neurology, Montreal Children's Hospital, McGill University, Quebec, Canada.
SOURCE: Arch-Neurol. 1998 May; 55(5): 733-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9942
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Two brothers had infantile epilepsia partialis continua alternately involving both sides of the body. The children rapidly developed severe psychomotor regression and cerebral atrophy. A brain biopsy specimen showed evidence of chronic inflammatory changes. Extensive investigation did not provide evidence of a specific viral pathogenesis, mitochondrial disorder, or any identifiable neurodegenerative genetically determined disorder. This illness has the features of Rasmussen chronic encephalitis, in which bilateral involvement is quite unusual. Although few patients with bilateral hemispheral involvement have been described, to our knowledge there have been no reported cases involving affected siblings. The familial disorder described herein may represent yet another variant of the classically sporadic and unilateral childhood form. This group of disorders is probably immunologically determined.
MAJOR MESH DESCRIPTORS: *Encephalitis-genetics; *Epilepsia-Partialis-Continua-genetics
MINOR MESH DESCRIPTORS: Child,-Preschool; Chronic-Disease; Diagnosis,-Differential; Encephalitis-diagnosis; Infant-; Syndrome-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; genetics
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98266770
RECORD FEATURES: ABSTRACT (AB)
Record 24 of 54 in MEDLINE (R) 1998 Part A
TITLE: Celiac disease, bilateral occipital calcifications and intractable epilepsy: mechanisms of seizure origin.
AUTHOR: Bernasconi,-A; Bernasconi,-N; Andermann,-F; Dubeau,-F; Guberman,-A; Gobbi,-G; Olivier,-A
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada.
SOURCE: Epilepsia. 1998 Mar; 39(3): 300-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: To elucidate the mechanisms of seizure origin in patients with celiac disease and bilateral occipital calcifications (CEBOC). Individuals with CEBOC frequently present with occipital lobe seizures, but additional lesions and additional attack patterns may occur. METHODS: We studied two men and one woman who had CEBOC. Villous atrophy was revealed in the two patients who underwent duodenal biopsy. All had a comprehensive presurgical evaluation, including prolonged video-EEG recordings. Two had magnetic resonance imaging (MRI) with volumetric study of mesial temporal structures (MRIV). One patient had undergone stereotactic intracranial depth electrode studies (SEEG). RESULTS: All patients presented with intractable complex partial seizures. Two had partial simple seizures with visual aura. Neurologic examination was normal; one was of normal intelligence, and two were mildly retarded. Neuroimaging studies showed that each had bilateral occipital calcifications as well as epileptiform abnormalities over temporal lobes. In one, MRI showed an additional right frontal lesion, but SEEG demonstrated right occipital lobe seizure origin with anterior spread; this male patient later underwent a right occipital lobe resection. Another with a history of prolonged febrile convulsions had bilateral hippocampal and amygdalar atrophy demonstrated by MRIV. CONCLUSIONS: In one patient, SEEG confirmed that seizures originated in the occipital lobe. The presence of dual pathology was demonstrated in another, raising the possibility of both occipital and temporal seizure onset. The presence of extraoccipital lesions or of mesial temporal atrophy requires SEEG for clarification of seizure onset. In the absence of confounding factors and when laterality can be demonstrated, surgical treatment may be considered.
MAJOR MESH DESCRIPTORS: *Calcinosis-epidemiology; *Celiac-Disease-epidemiology; *Electroencephalography-methods; *Epilepsy,-Complex-Partial-diagnosis; *Magnetic-Resonance-Imaging; *Occipital-Lobe-pathology
MINOR MESH DESCRIPTORS: Adult-; Calcinosis-diagnosis; Calcinosis-pathology; Comorbidity-; Electrodes,-Implanted; Epilepsy,-Complex-Partial-epidemiology; Epilepsy,-Complex-Partial-etiology; Middle-Age; Monitoring,-Physiologic
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; epidemiology; pathology; methods; etiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98237159
RECORD FEATURES: ABSTRACT (AB)
Record 25 of 54 in MEDLINE (R) 1998 Part A
TITLE: Catastrophic deterioration and hippocampal atrophy after childhood status epilepticus.
AUTHOR: Gross,-D-W; Li,-L-M; Andermann,-F
SOURCE: Ann-Neurol. 1998 May; 43(5): 687
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
COMMENTS: Comment On: Ann Neurol. 1997 Jul;42(1):11-7
MAJOR MESH DESCRIPTORS: *Cognition-Disorders-pathology; *Hippocampus-pathology; *Status-Epilepticus-pathology
MINOR MESH DESCRIPTORS: Atrophy-; Child-; Infant-
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Comment; Letter
SUBHEADINGS: pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98244770
Record 26 of 54 in MEDLINE (R) 1998 Part A
TITLE: Excellent surgical results obtained in patients with a depressed frontal fracture leading to frontal encephalomalacia and intractable frontal seizures.
AUTHOR: Andermann,-F; Cukiert,-A; Olivier,-A
SOURCE: Epilepsia. 1998 Jan; 39(1): 108
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
COMMENTS: Comment On: Epilepsia. 1997 Jun;38(6):670-7
MAJOR MESH DESCRIPTORS: *Brain-Diseases-etiology; *Brain-Diseases-surgery; *Epilepsy,-Frontal-Lobe-etiology; *Epilepsy,-Frontal-Lobe-surgery; *Epilepsy,-Post-Traumatic-etiology; *Epilepsy,-Post-Traumatic-surgery; *Frontal-Bone-injuries; *Frontal-Lobe-surgery; *Skull-Fractures-complications
MINOR MESH DESCRIPTORS: Encephalomalacia-complications; Encephalomalacia-etiology; Encephalomalacia-surgery; Frontal-Lobe-injuries; Treatment-Outcome
CHECKTAGS: Human
PUBLICATION TYPE: Comment; Letter
SUBHEADINGS: etiology; surgery; complications; injuries
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98237131
Record 27 of 54 in MEDLINE (R) 1998 Part A
TITLE: Late-onset temporal lobe epilepsy and dilatation of the hippocampal sulcus by an enlarged Virchow-Robin space.
AUTHOR: Bastos,-A-C; Andermann,-F; Melancon,-D; Cendes,-F; Guberman,-A; Dubeau,-F; Olivier,-A
ADDRESS OF AUTHOR: Department of Neurology, Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
SOURCE: Neurology. 1998 Mar; 50(3): 784-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: MRI signal changes within the hippocampal sulcus have been attributed to a dilated Virchow-Robin space within that sulcus, but no clinical correlates have previously been described. We present a 64-year-old man who developed right temporal seizures. MRI revealed an unusually enlarged Virchow-Robin space within the hippocampus, suggesting space-occupying effect. Such an abnormality should be considered a possible etiology in patients with late-onset temporal lobe epilepsy.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-diagnosis; *Hippocampus-pathology
MINOR MESH DESCRIPTORS: Age-of-Onset; Electroencephalography-; Epilepsy,-Temporal-Lobe-epidemiology; Middle-Age
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis; epidemiology; pathology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98180572
RECORD FEATURES: ABSTRACT (AB)
Record 28 of 54 in MEDLINE (R) 1998 Part A
TITLE: Double pathology in Rasmussen's syndrome: a window on the etiology?
AUTHOR: Hart,-Y-M; Andermann,-F; Robitaille,-Y; Laxer,-K-D; Rasmussen,-T; Davis,-R
ADDRESS OF AUTHOR: Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Quebec, Canada.
SOURCE: Neurology. 1998 Mar; 50(3): 731-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The syndrome of chronic encephalitis with epilepsy (Rasmussen's syndrome) typically occurs in children and is characterized by the development of intractable focal seizures, progressive hemiparesis and intellectual deterioration. The etiology is unknown, and the pathological abnormalities vary from those of active disease, with numerous microglial nodules, with or without neuronophagia, perivascular round cells and glial scarring, to those of remote disease, demonstrated by neuronal loss, gliosis and perivascular round cells but few microglial nodules. We describe five patients presenting with clinical features typical of Rasmussen's syndrome, in whom pathological examination showed a second, previously unsuspected pathology in addition to the changes of chronic encephalitis. Two of the patients had vascular abnormalities bearing some resemblance to cavernous angiomata, one had a tumor, one had tuberous sclerosis, and one the forme fruste of tuberous sclerosis. The coexistence of a second pathology in these patients may provide information about the underlying mechanism of this rare condition.
MAJOR MESH DESCRIPTORS: *Encephalitis-complications; *Epilepsy,-Generalized-complications
MINOR MESH DESCRIPTORS: Adolescence-; Brain-Neoplasms-complications; Child-; Child,-Preschool; Chronic-Disease; Encephalitis-etiology; Epilepsy,-Generalized-etiology; Hemangioma,-Cavernous-complications; Infant-; Syndrome-; Tuberous-Sclerosis-complications
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; etiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98180561
RECORD FEATURES: ABSTRACT (AB)
Record 29 of 54 in MEDLINE (R) 1998 Part A
TITLE: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
AUTHOR: Mitchison,-H-M; Hofmann,-S-L; Becerra,-C-H; Munroe,-P-B; Lake,-B-D; Crow,-Y-J; Stephenson,-J-B; Williams,-R-E; Hofman,-I-L; Taschner,-P-E; Martin,-J-J; Philippart,-M; Andermann,-E; Andermann,-F; Mole,-S-E; Gardiner,-R-M; O'Rawe,-A-M
ADDRESS OF AUTHOR: Department of Paediatrics, University College London Medical School, The Rayne Institute, 5 University Street, London WC1E 6JJ, UK. hmitchis@ucl.ac.uk
SOURCE: Hum-Mol-Genet. 1998 Feb; 7(2): 291-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence supporting linkage of this phenotype, designated vJNCL/GROD, to the INCL region of chromosome 1p32 was demonstrated (pairwise lod score with D1S211 , Z max = 2.63, straight theta = 0.00). The INCL gene, palmitoyl-protein thioesterase (PPT ; CLN1), was therefore screened for mutations in 11 vJNCL/GROD families. Five mutations in the PPT gene were identified: three missense mutations, Thr75Pro, Asp79Gly, Leu219Gln, and two nonsense mutations, Leu10STOP and Arg151STOP. The missense mutation Thr75Pro accounted for nine of the 22 disease chromosomes analysed and the nonsense mutation Arg151STOP for seven. Nine out of 11 patients were shown to combine a missense mutation on one disease chromosome with a nonsense mutation on the other. Mutations previously identified in INCL were not observed in vJNCL/GROD families. Thioesterase activity in peripheral blood lymphoblast cells was found to be markedly reduced in vJNCL/GROD patients compared with controls. These results demonstrate that this subtype of JNCL is allelic to INCL and further emphasize the correlation which exists between genetic basis and ultrastructural changes in the NCLs.
COMMENTS: Erratum In: Hum Mol Genet 1998 Apr;7(4):765
MAJOR MESH DESCRIPTORS: *Neuronal-Ceroid-Lipofuscinosis-genetics; *Neurons-ultrastructure; *Point-Mutation; *Thiolester-Hydrolases-genetics
MINOR MESH DESCRIPTORS: Age-of-Onset; Alleles-; Child-; Cytoplasmic-Granules-ultrastructure; DNA-Mutational-Analysis; Europe-epidemiology; Exons-genetics; Genetic-Heterogeneity; Genotype-; Lymphocytes-enzymology; Neuronal-Ceroid-Lipofuscinosis-classification; Neuronal-Ceroid-Lipofuscinosis-epidemiology; Neuronal-Ceroid-Lipofuscinosis-pathology; North-America-epidemiology; Polymerase-Chain-Reaction; RNA,-Messenger-genetics; Sequence-Analysis,-DNA; Thiolester-Hydrolases-deficiency
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: ultrastructure; epidemiology; genetics; enzymology; classification; pathology; deficiency
CAS REGISTRY NUMBER OR EC NUMBER: 0; EC 3.1.2.; EC 3.1.2.-
NAME OF SUBSTANCE: RNA,-Messenger; Thiolester-Hydrolases; palmitoyl-protein-thioesterase
CONTRACT OR GRANT NUMBERS: NS36867NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98087582
RECORD FEATURES: ABSTRACT (AB)
Record 30 of 54 in MEDLINE (R) 1998 Part A
TITLE: Epilepsy induced by thinking and spatial tasks.
AUTHOR: Andermann,-F; Zifkin,-B-G; Andermann,-E
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
SOURCE: Adv-Neurol. 1998; 75263-72
INTERNATIONAL STANDARD SERIAL NUMBER: 0091-3952
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Epilepsy-psychology; *Space-Perception-physiology; *Thinking-physiology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Child-; Electroencephalography-; Epilepsy-epidemiology; Epilepsy-genetics; Epilepsy-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: epidemiology; genetics; physiopathology; psychology; physiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98046536
Record 31 of 54 in MEDLINE (R) 1998 Part A
TITLE: Seizures induced by eating.
AUTHOR: Remillard,-G-M; Zifkin,-B-G; Andermann,-F
ADDRESS OF AUTHOR: Departement des Sciences Neurologiques, Hopital du Sacre-Coeur, Faculty of Medicine, University of Montreal, Quebec, Canada.
SOURCE: Adv-Neurol. 1998; 75227-40
INTERNATIONAL STANDARD SERIAL NUMBER: 0091-3952
PUBLICATION YEAR: 1998
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Eating-physiology; *Seizures-physiopathology
MINOR MESH DESCRIPTORS: Adult-; Aged-; Middle-Age
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: physiology; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98046534
Record 32 of 54 in MEDLINE (R) 1997 Part B
TITLE: Normalization of neuronal metabolic dysfunction after surgery for temporal lobe epilepsy. Evidence from proton MR spectroscopic imaging.
AUTHOR: Cendes,-F; Andermann,-F; Dubeau,-F; Matthews,-P-M; Arnold,-D-L
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, Quebec, Canada.
SOURCE: Neurology. 1997 Dec; 49(6): 1525-33
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Surgery is a safe and effective treatment for patients with temporal lobe epilepsy (TLE) who do not respond adequately to anticonvulsant medication and in whom the seizure generator can be identified and safely removed. Proton MR spectroscopic imaging (MRSI) can image and quantify neuronal damage in patients with TLE based on reduced signals from N-acetylaspartate (NAA), a compound localized exclusively in neurons. We performed proton MRSI in patients with TLE before and after surgical treatment to determine whether NAA or other resonance intensities changed in the temporal lobes of patients with TLE after surgery, and whether these changes correlated with surgical outcome. N-acetylaspartate resonance intensity relative to creatine (NAA/Cr) was abnormally low preoperatively in at least one temporal lobe in all 14 patients examined. It was low ipsilaterally in the patients who became seizure free and bilaterally in those who did not. Postoperatively, it increased to the normal range on the side of surgery in all patients who became seizure free. In the one patient who became seizure free and who had low NAA/Cr in both temporal lobes before surgery, NAA/Cr values in the contralateral, unoperated temporal lobe also increased to the normal range. In contrast, NAA relative intensity ratios did not change in those patients who continued to have seizures after surgery. The creatine resonance intensity (Cr) in the temporal lobes was high, relative to the brainstem, in seven patients preoperatively. After surgery, the Cr remained high in two patients, both of whom continued to have seizures. We conclude that NAA (and Cr) abnormalities in TLE do not result solely from neuronal loss and gliosis but can be reversible after postsurgical control of seizures. This implies that the NAA and Cr abnormalities in patients with TLE, at least in part, are dynamic markers of both local and remote physiologic dysfunction associated with ongoing seizures.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-metabolism; *Epilepsy,-Temporal-Lobe-surgery; *Neurons-metabolism
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-metabolism; Choline-metabolism; Creatine-metabolism; Electroencephalography-; Epilepsy,-Temporal-Lobe-diagnosis; Epilepsy,-Temporal-Lobe-pathology; Magnetic-Resonance-Spectroscopy; Middle-Age; Postoperative-Period; Protons-; Reference-Values; Treatment-Outcome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analogs-and-derivatives; metabolism; diagnosis; pathology; surgery
CAS REGISTRY NUMBER OR EC NUMBER: 0; 56-84-8; 57-00-1; 62-49-7; 997-55-7
NAME OF SUBSTANCE: Protons; Aspartic-Acid; Creatine; Choline; N-acetylaspartate
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98073805
RECORD FEATURES: ABSTRACT (AB)
Record 33 of 54 in MEDLINE (R) 1997 Part B
TITLE: Progressive myoclonus epilepsy in young adults with neuropathologic features of Alzheimer's disease.
AUTHOR: Melanson,-M; Nalbantoglu,-J; Berkovic,-S; Melmed,-C; Andermann,-E; Roberts,-L-J; Carpenter,-S; Snipes,-G-J; Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University and Montreal Neurological Institute, Quebec, Canada.
SOURCE: Neurology. 1997 Dec; 49(6): 1732-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Progressive myoclonus epilepsy (PME) may develop in adult life. We present two patients with PME appearing around the age of 30 years in whom the disorder represented a manifestation of Alzheimer's disease. This diagnosis must be considered in addition to possible Kufs' disease or myoclonic epilepsy with ragged red fibers (MERRF) when PME develops in young adults.
MAJOR MESH DESCRIPTORS: *Alzheimer-Disease-pathology; *Brain-pathology; *Epilepsies,-Myoclonic-pathology; *Epilepsies,-Myoclonic-physiopathology
MINOR MESH DESCRIPTORS: Adult-; Diagnosis,-Differential; Disease-Progression
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; physiopathology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98073847
RECORD FEATURES: ABSTRACT (AB)
Record 34 of 54 in MEDLINE (R) 1997 Part B
TITLE: Results of surgical treatment in temporal lobe epilepsy with chronic psychosis.
AUTHOR: Reutens,-D-C; Savard,-G; Andermann,-F; Dubeau,-F; Olivier,-A
ADDRESS OF AUTHOR: Montreal Neurological Hospital and Institute, Quebec, Canada.
SOURCE: Brain. 1997 Nov; 120 ( Pt 11)1929-36
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8950
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The combination of psychosis and refractory temporal lobe epilepsy is not rare. However, patients with chronic interictal psychosis and refractory epilepsy are rejected from many epilepsy surgery programmes purely on psychiatric grounds. It is often assumed that disturbed behaviour will prevent adequate preoperative evaluation or that the patients are unable to provide informed consent for preoperative investigations and for surgery. The observation that the psychosis usually does not improve after operation and fears of an exacerbation of psychosis with post-surgical seizure remission, analogous to 'forced normalization', are further deterrents to surgery in these patients. We describe five patients with the dual diagnoses of medically intractable temporal lobe epilepsy and chronic psychosis who underwent temporal lobe resection. The patients were able to provide informed consent and were easily managed during preoperative investigation. Seizure outcome has been excellent in all. Neither temporal lobe resection nor remission of seizures influenced the nature or evolution of the psychosis. Subjectively the patients functioned better in activities of daily living and freedom from seizures improved integration into psychiatric treatment facilities. With appropriate psychiatric intervention, patients with chronic psychosis and refractory epilepsy can participate in presurgical investigation successfully, and can undergo surgery uneventfully.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-psychology; *Epilepsy,-Temporal-Lobe-surgery; *Psychotic-Disorders-complications
MINOR MESH DESCRIPTORS: Adult-; Amygdala-physiopathology; Antipsychotic-Agents-therapeutic-use; Chronic-Disease; Hippocampus-physiopathology; Patient-Compliance; Psychotic-Disorders-drug-therapy; Psychotic-Disorders-rehabilitation; Temporal-Lobe-physiopathology; Temporal-Lobe-surgery; Treatment-Outcome
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: physiopathology; therapeutic-use; psychology; surgery; complications; drug-therapy; rehabilitation
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Antipsychotic-Agents
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98059146
RECORD FEATURES: ABSTRACT (AB)
Record 35 of 54 in MEDLINE (R) 1997 Part B
TITLE: Learning and retention of words and designs following excision from medial or lateral temporal-lobe structures.
AUTHOR: Jones-Gotman,-M; Zatorre,-R-J; Olivier,-A; Andermann,-F; Cendes,-F; Staunton,-H; McMackin,-D; Siegel,-A-M; Wieser,-H-G
ADDRESS OF AUTHOR: Montreal Neurological Institute, Quebec, Canada.
SOURCE: Neuropsychologia. 1997 Jul; 35(7): 963-73
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We sought to elucidate the contributions of the amygdala, hippocampus and temporal neocortex to learning and memory for verbal and visuospatial material. Two matched learning tasks, using abstract words versus abstract designs, were administered to patients with unilateral neocorticectomy (NCE; Dublin), selective amygdalohippocampectomy (AHE; Zurich) or anterior temporal-lobe resection invading the amygdala and hippocampus (ATL; Montreal). Data were analysed according to side and type of resection. Learning and recall for words was impaired in groups with resection from the left temporal lobe, irrespective of whether mediobasal structures were spared or temporal neocortex was spared. All right-resection groups were unimpaired. Learning for abstract designs was impaired across all trials in the right AHE and NCE groups, and on the last two trials in the right ATL group. Restricted deficits of lower magnitude were observed on some trials in left-resection groups. These results show a partial dissociation between side of excision and type of material, but the finding of similar deficits in all resection types was unexpected. We propose that excision from either the hippocampal region or temporal neocortex may result in a disconnection, giving a similar functional outcome, as both types of resection interrupt a circuit likely to be essential for normal storage and retrieval of information.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-surgery; *Pattern-Recognition,-Visual-physiology; *Postoperative-Complications-physiopathology; *Psychosurgery-; *Retention-Psychology-physiology; *Temporal-Lobe-surgery; *Verbal-Learning-physiology
MINOR MESH DESCRIPTORS: Amygdala-physiopathology; Amygdala-surgery; Attention-physiology; Brain-Mapping; Epilepsy,-Temporal-Lobe-physiopathology; Hippocampus-physiopathology; Hippocampus-surgery; Long-Term-Potentiation-physiology; Nerve-Net-physiopathology; Nerve-Net-surgery; Temporal-Lobe-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: physiopathology; surgery; physiology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97370295
RECORD FEATURES: ABSTRACT (AB)
Record 36 of 54 in MEDLINE (R) 1997 Part B
TITLE: Sindrome de Andermann. Presentacion de un caso.
[Andermann syndrome: presentation of a case]
AUTHOR: Gurtubay,-I-G; Yoldi,-M-E; Carrera,-B; Morales,-G; Berrade,-S; Alvarez,-M-J
ADDRESS OF AUTHOR: Servicio de Neurofisiologia Clinica, Hospital Virgen del Camino, Pamplona, Navarra, Espana.
SOURCE: Rev-Neurol. 1997 Jul; 25(143): 1087-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0210-0010
PUBLICATION YEAR: 1997
LANGUAGE: Spanish; Non-English
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: INTRODUCTION: Peripheral neuropathy with agenesis of the corpus callosum (or Andermann's syndrome) is a hereditary autosomal recessive disorder rarely found outside certain regions of Quebec Province (Canada). It is associated with mental retardation and various dysmorphic changes. Deterioration is usually progressive with loss of motor skills, development of scoliosis during adolescence, tendency to behaviour disorders and death during the third decade (approximately). CLINICAL CASE: We present a 13 year old girl diagnosed as having the spastic tetraparesic type of PCI, who was sent to us so that we could reconsider the diagnosis in view of the atypical course of the illness. The patient had an unusual phenotype with dysmorphic changes (mainly facial), axial hypotonia with flexion-retraction of the hands, generalized arreflexia, neurogenic bladder, skin changes with ulcers on the legs and mental retardation. Neurophysiological studies showed a predominantly motor polyneuropathy. There were signs of axonal neuropathy on both sural nerve and skeletal muscle biopsies. The clinical features, phenotype, microcephaly with agenesis of the corpus callosum and a posterior fossa cyst, associated with spinal atrophy indicated the diagnosis of Andermann's syndrome. CONCLUSIONS: This case is of interest in view of the exceptional rarity of Andermann's syndrome in our population.
MAJOR MESH DESCRIPTORS: *Brain-Diseases-pathology; *Corpus-Callosum-abnormalities
MINOR MESH DESCRIPTORS: Adolescence-; Age-of-Onset; Bladder,-Neurogenic; Magnetic-Resonance-Imaging; Muscle-Hypotonia; Paresis-; Psychomotor-Disorders; Syndrome-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97383848
RECORD FEATURES: ABSTRACT (AB)
Record 37 of 54 in MEDLINE (R) 1997 Part B
TITLE: Proton magnetic resonance spectroscopic imaging and magnetic resonance imaging volumetry in the lateralization of temporal lobe epilepsy: a series of 100 patients.
AUTHOR: Cendes,-F; Caramanos,-Z; Andermann,-F; Dubeau,-F; Arnold,-D-L
ADDRESS OF AUTHOR: Montreal Neurological Institute, McGill University, Quebec, Canada.
SOURCE: Ann-Neurol. 1997 Nov; 42(5): 737-46
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Surgery is a safe and effective treatment for drug-resistant temporal lobe epilepsy (TLE). However, bilateral electroencephalographic (EEG) abnormalities are frequently present, making presurgical lateralization difficult. New magnetic resonance (MR) techniques can help; proton magnetic resonance spectroscopic imaging (MRSI) can detect and quantify focal neuronal damage or dysfunction based on reduced signals from the neuronal marker N-acetylaspartate, and magnetic resonance imaging (MRI)-based measurements of amygdala-hippocampal volumes (MRIVol) can improve the detection of atrophy of these structures. We performed proton MRSI and MRIVol in 100 consecutive patients with medically intractable TLE to determine how well these techniques agreed with the lateralization by extensive EEG investigation. We found that the EEG, MRSI, and MRIVol findings were highly concordant. The MRSI was abnormal in 99 of 100 patients (bilateral in 54%). The MRIVol was abnormal in 86 of 98 patients (bilateral in 28%). We obtained lateralization in 83% of patients using MRIVol alone, in 86% using MRSI alone, and in 90% by combining MRSI and MRIVol (vs 93% lateralization by EEG). MRSI was abnormal in 12 patients with normal MRIVol. The combination of proton MRSI and MRIVol can lateralize TLE accurately and noninvasively in the great majority of patients. By reducing reliance on EEG, these imaging techniques could reduce prolonged presurgical evaluation and make seizure surgery available to more patients.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Temporal-Lobe-diagnosis; *Laterality-; *Magnetic-Resonance-Imaging-methods; *Magnetic-Resonance-Spectroscopy-diagnostic-use
MINOR MESH DESCRIPTORS: Adult-; Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-analysis; Creatinine-analysis; Electroencephalography-; Epilepsy,-Temporal-Lobe-surgery; Middle-Age; Protons-; Temporal-Lobe-chemistry; Temporal-Lobe-physiopathology; Treatment-Outcome
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analogs-and-derivatives; analysis; diagnosis; surgery; methods; diagnostic-use; chemistry; physiopathology
CAS REGISTRY NUMBER OR EC NUMBER: 0; 56-84-8; 60-27-5; 997-55-7
NAME OF SUBSTANCE: Protons; Aspartic-Acid; Creatinine; N-acetylaspartate
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98052466
RECORD FEATURES: ABSTRACT (AB)
Record 38 of 54 in MEDLINE (R) 1997 Part B
TITLE: Proton magnetic resonance spectroscopic imaging for discrimination of absence and complex partial seizures.
AUTHOR: Cendes,-F; Stanley,-J-A; Dubeau,-F; Andermann,-F; Arnold,-D-L
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
SOURCE: Ann-Neurol. 1997 Jan; 41(1): 74-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We performed proton magnetic resonance spectroscopic imaging of the temporal lobes between, during, and soon after nonconvulsive seizures in 20 patients with documented temporal lobe epilepsy, 5 patients with primary generalized epilepsy, and 2 patients with secondary generalized epilepsy. Our objective was to determine whether there were metabolic changes observable by magnetic resonance spectroscopic imaging during seizures and whether these changes were specific for focal or generalized nonconvulsive seizures. We found a significant increase in lactate to creatine plus phosphocreatine (lactate/creatine) values, reflecting an imbalance in energy supply and demand or an adaptation in response to ictal neuronal discharges, during and soon after complex partial seizures, but not during or soon after absence seizures associated with generalized epilepsy. In patients with temporal lobe epilepsy, the N-acetylaspartate resonance relative to creatine plus phosphocreatine was low in one or both temporal lobes, indicating neuronal loss or damage. This was not observed in patients with primary generalized epilepsy. The regions with abnormal lactate/creatine and N-acetylaspartate/creatine values corresponded to the epileptogenic focus as defined by clinical-electroencephalographic investigation. There was no change in the N-acetylaspartate/creatine values in the temporal lobes between the interictal, ictal, or postictal states. We conclude that (1) partial seizures are associated with abnormally high lactate levels, but absence seizures are not, and (2) no short-term changes of N-acetylaspartate occur during or soon after complex partial seizures or absence seizures. These findings may be related to the lack of postictal confusion in patients with absence seizures, as well as with the more benign course of primary generalized epilepsy with nonconvulsive attacks.
MAJOR MESH DESCRIPTORS: *Epilepsy,-Absence-metabolism; *Epilepsy,-Complex-Partial-metabolism
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Epilepsy,-Temporal-Lobe-metabolism; Magnetic-Resonance-Spectroscopy; Middle-Age; Protons-; Temporal-Lobe-metabolism
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: metabolism
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Protons
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97158508
RECORD FEATURES: ABSTRACT (AB)
Record 39 of 54 in MEDLINE (R) 1997 Part B
TITLE: The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
AUTHOR: Montermini,-L; Andermann,-E; Labuda,-M; Richter,-A; Pandolfo,-M; Cavalcanti,-F; Pianese,-L; Iodice,-L; Farina,-G; Monticelli,-A; Turano,-M; Filla,-A; De-Michele,-G; Cocozza,-S
ADDRESS OF AUTHOR: Centre de Recherche Louis-Charles Simard, Montreal, Quebec, Canada.
SOURCE: Hum-Mol-Genet. 1997 Aug; 6(8): 1261-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is the hyperexpansion of a polymorphic GAA triplet repeat localized within an Alu sequence (GAA-Alu) in the first intron of the frataxin (X25) gene. GAA-Alu belongs to the AluSx subfamily and contains several polymorphisms in strong linkage disequilibrium either with a subgroup of normal alleles, or with hyperexpanded FRDA-associated alleles. GAA repeat sizes in 300 normal chromosomes (97 from carriers and 203 from controls) were distributed in two separate groups: 83% of them contained between six and 10 triplets (small normal alleles), while the remaining 17% had more than 12 triplets, up to 36 (large normal alleles). Sequence analysis showed that no normal, stable allele contained more than 27 uninterrupted GAA triplets. All longer normal alleles were interrupted by a hexanucleotide repeat (GAGGAA). An allele containing an uninterrupted run of 34 GAA triplets was stably transmitted in four instances, but in one case underwent hyperexpansion to 650 triplets. Overall, our results suggest that the FRDA-associated expanded GAA repeats originate from normal alleles by recurrent expansions of alleles at risk.
MAJOR MESH DESCRIPTORS: *Alleles-; *Friedreich-Ataxia-genetics; *Trinucleotide-Repeats
MINOR MESH DESCRIPTORS: Base-Sequence; DNA-; Molecular-Sequence-Data; Mutation-; Phosphotransferases-Alcohol-Group-Acceptor-genetics; Polymorphism-Genetics
CHECKTAGS: Case-Report; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics
CAS REGISTRY NUMBER OR EC NUMBER: 9007-49-2; EC 2.7.1; EC 2.7.1.-
NAME OF SUBSTANCE: DNA; Phosphotransferases-(Alcohol-Group-Acceptor); frataxin
CONTRACT OR GRANT NUMBERS: NS34192NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97402207
RECORD FEATURES: ABSTRACT (AB)
Record 40 of 54 in MEDLINE (R) 1997 Part B
TITLE: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
AUTHOR: Montermini,-L; Richter,-A; Morgan,-K; Justice,-C-M; Julien,-D; Castellotti,-B; Mercier,-J; Poirier,-J; Capozzoli,-F; Bouchard,-J-P; Lemieux,-B; Mathieu,-J; Vanasse,-M; Seni,-M-H; Graham,-G; Andermann,-F; Andermann,-E; Melancon,-S-B; Keats,-B-J; Di-Donato,-S; Pandolfo,-M
ADDRESS OF AUTHOR: Centre de Recherche Louis-Charles Simard, Montreal, Quebec, Canada.
SOURCE: Ann-Neurol. 1997 May; 41(5): 675-82
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We studied genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations, including 44 Acadian FRDA, 8 late-onset FRDA (LOFA), and 6 FRDA with retained reflexes (FARR). All patients, except 3 with typical FRDA, carried two copies of the FRDA-associated GAA triplet repeat expansion. Overall, the phenotypic spectrum of FRDA appeared to be wider than defined by the currently used diagnostic criteria. Our study indicated the existence of several sources of variability in FRDA. Patients with larger GAA expansions tended to have earlier onset and were more likely to show additional manifestations of the disease. Mitotic instability of the expanded GAA repeats may partially account for the limited degree of correlation between expansion sizes as determined in lymphocytes and clinical parameters. Some clinical variants associated with specific FRDA haplotypes, such as Acadian FRDA and FARR, turned out to be unrelated to expansion sizes. No polymorphism in the frataxin coding sequence could be associated with these clinical variants.
MAJOR MESH DESCRIPTORS: *Friedreich-Ataxia-classification; *Friedreich-Ataxia-genetics; *Trinucleotide-Repeats
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Age-of-Onset; Child-; DNA-analysis; Disease-Progression; Friedreich-Ataxia-epidemiology; Genotype-; Phenotype-
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: analysis; classification; epidemiology; genetics
CAS REGISTRY NUMBER OR EC NUMBER: 9007-49-2
NAME OF SUBSTANCE: DNA
CONTRACT OR GRANT NUMBERS: NS34192NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97297899
RECORD FEATURES: ABSTRACT (AB)
Record 41 of 54 in MEDLINE (R) 1997 Part B
TITLE: Periventricular nodular heterotopia and intractable temporal lobe epilepsy: poor outcome after temporal lobe resection.
AUTHOR: Li,-L-M; Dubeau,-F; Andermann,-F; Fish,-D-R; Watson,-C; Cascino,-G-D; Berkovic,-S-F; Moran,-N; Duncan,-J-S; Olivier,-A; Leblanc,-R; Harkness,-W
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Quebec, Canada.
SOURCE: Ann-Neurol. 1997 May; 41(5): 662-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe 5 women and 5 men with periventricular nodular heterotopia and electroclinical features suggestive of temporal lobe epilepsy, who were surgically treated for control of medically refractory seizures. Magnetic resonance imaging revealed bilateral periventricular nodular heterotopia in 7 of the 10 patients. Because of the lack of clear localization, 6 patients were studied with intracranial depth electrode recordings. Seizures were of hippocampal onset (3 patients), regional temporal lobe onset (2 patients), or occipital-temporal onset (1 patient). Anterior temporal lobectomy was performed in 6 patients; selective amygdalohippocampectomy, in 1; and anterior temporal lobectomy plus resection of the heterotopic tissue, in 3. None of the 9 patients followed for more than 12 months postoperatively were seizure free. Two patients were initially seizure free for approximately 18 months, but then seizures recurred. One patient had a major reduction in seizure frequency at a 39-month follow-up after most of the unilateral heterotopic tissue was included in the temporal resection. Temporal resection did not lead to a long-term favorable outcome in this group of patients with periventricular nodular heterotopia and epileptogenic discharges involving the temporal lobe. This suggests a more widespread disorder with epileptogenic activity possibly originating in or near the heterotopic tissue. The clinical and electrographic features of periventricular nodular heterotopia pointing to temporal lobe origin are misleading and temporal resection does not result in long-term cessation of seizures.
MAJOR MESH DESCRIPTORS: *Brain-Diseases-surgery; *Choristoma-surgery; *Epilepsy,-Temporal-Lobe-surgery; *Temporal-Lobe
MINOR MESH DESCRIPTORS: Adult-; Amygdala-surgery; Brain-Diseases-pathology; Choristoma-pathology; Follow-Up-Studies; Gliosis-; Hippocampus-pathology; Hippocampus-surgery; Treatment-Outcome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: surgery; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97297897
RECORD FEATURES: ABSTRACT (AB)
Record 42 of 54 in MEDLINE (R) 1997 Part B
TITLE: Familial progressive sensorimotor neuropathy with agenesis of the corpus callosum (Andermann syndrome): a clinical, neuroradiological and histopathological study.
AUTHOR: Deleu,-D; Bamanikar,-S-A; Muirhead,-D; Louon,-A
ADDRESS OF AUTHOR: Department of Clinical Pharmacology and Neurology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
SOURCE: Eur-Neurol. 1997; 37(2): 104-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0014-3022
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Three siblings from consanguineous parents, originating from Tanzania, presented with symptoms of complete or partial agenesis of the corpus callosum. Two males had in addition a sensorimotor neuropathy, moderate mental retardation and skeletal dysmorphism (Andermann syndrome). A study of sural nerve biopsies revealed thickening of the perineurium and reduction in the number of large myelinated fibres with axonal degeneration. Muscle biopsies showed neurogenic atrophy. The Andermann syndrome is autosomal recessive and almost exclusively confined to the region of Charlevoix and Saguenay-Lac-St-Jean (Quebec, Canada). Moreover in families with the Andermann syndrome, no siblings with only agenesis of the corpus callosum have been described.
MAJOR MESH DESCRIPTORS: *Corpus-Callosum-abnormalities; *Hereditary-Motor-and-Sensory-Neuropathies-genetics
MINOR MESH DESCRIPTORS: Adolescence-; Axons-pathology; Biopsy-; Brain-pathology; Child-; Chromosome-Abnormalities-genetics; Consanguinity-; Corpus-Callosum-pathology; Genes,-Recessive-genetics; Hereditary-Motor-and-Sensory-Neuropathies-diagnosis; Hereditary-Motor-and-Sensory-Neuropathies-pathology; Mental-Retardation-diagnosis; Mental-Retardation-genetics; Mental-Retardation-pathology; Nerve-Fibers,-Myelinated-pathology; Sural-Nerve-pathology; Syndrome-; Tanzania-; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; genetics; abnormalities; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97211068
RECORD FEATURES: ABSTRACT (AB)
Record 43 of 54 in MEDLINE (R) 1997 Part A
TITLE: Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
AUTHOR: Lafreniere,-R-G; Rochefort,-D-L; Chretien,-N; Rommens,-J-M; Cochius,-J-I; Kalviainen,-R; Nousiainen,-U; Patry,-G; Farrell,-K; Soderfeldt,-B; Federico,-A; Hale,-B-R; Cossio,-O-H; Sorensen,-T; Pouliot,-M-A; Kmiec,-T; Uldall,-P; Janszky,-J; Pranzatelli,-M-R; Andermann,-F; Andermann,-E; Rouleau,-G-A
ADDRESS OF AUTHOR: Centre for Research in Neuroscience, McGill Univ., Montreal, Quebec, Canada. bhgr@musicb.mcgill.ca
SOURCE: Nat-Genet. 1997 Mar; 15(3): 298-302
INTERNATIONAL STANDARD SERIAL NUMBER: 1061-4036
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Progressive myoclonus epilepsy type 1 (EPM1, also known as Unverricht-Lundborg disease) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent generalized tonic-clonic seizures, and a slowly progressive decline in cognition. Recently, two mutations in the cystatin B gene (also known as stefin B, STFB) mapping to 21q22.3 have been implicated in the EPM1 phenotype: a G-->C substitution in the last nucleotide of intron 1 that was predicted to cause a splicing defect in one family, and a C-->T substitution that would change an Arg codon (CGA) to a stop codon (TGA) at amino acid position 68, resulting in a truncated cystatin B protein in two other families. A fourth family showed undetectable amounts of STFB mRNA by northern blot analysis in an affected individual. We present haplotype and mutational analyses of our collection of 20 unrelated EPM1 patients and families from different ethnic groups. We identify four different mutations, the most common of which consists of an unstable approximately 600-900 bp insertion which is resistant to PCR amplification. This insertion maps to a 12-bp polymorphic tandem repeat located in the 5' flanking region of the STFB gene, in the region of the promoter. The size of the insertion varies between different EPM1 chromosomes sharing a common haplotype and a common origin, suggesting some level of meiotic instability over the course of many generations. This dynamic mutation, which appears distinct from conventional trinucleotide repeat expansions, may arise via a novel mechanism related to the instability of tandemly repeated sequences.
MAJOR MESH DESCRIPTORS: *Cystatins-genetics; *DNA-Transposable-Elements; *Epilepsies,-Myoclonic-genetics; *Mutation-
MINOR MESH DESCRIPTORS: Base-Sequence; Chromosomes,-Human,-Pair-21; Cysteine-Proteinase-Inhibitors-genetics; DNA-Primers; Haplotypes-; Molecular-Sequence-Data; Pedigree-; Polymerase-Chain-Reaction; Polymorphism-Genetics; Regulatory-Sequences,-Nucleic-Acid; Repetitive-Sequences,-Nucleic-Acid
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 88844-95-5
NAME OF SUBSTANCE: Cystatins; Cysteine-Proteinase-Inhibitors; DNA-Primers; DNA-Transposable-Elements; stefin
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97207653
RECORD FEATURES: ABSTRACT (AB)
Record 44 of 54 in MEDLINE (R) 1997 Part A
TITLE: Surgical treatment of patients with single and dual pathology: relevance of lesion and of hippocampal atrophy to seizure outcome.
AUTHOR: Li,-L-M; Cendes,-F; Watson,-C; Andermann,-F; Fish,-D-R; Dubeau,-F; Free,-S; Olivier,-A; Harkness,-W; Thomas,-D-G; Duncan,-J-S; Sander,-J-W; Shorvon,-S-D; Cook,-M-J; Arnold,-D-L
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Quebec, Canada.
SOURCE: Neurology. 1997 Feb; 48(2): 437-44
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Modern neuroimaging can disclose epileptogenic lesions in many patients with partial epilepsy and, at times, display the coexistence of hippocampal atrophy in addition to an extrahippocampal lesion (dual pathology). We studied the postoperative seizure outcome of 64 patients with lesional epilepsy (median follow-up, 30 months) and considered separately the surgical results in the 51 patients with a single lesion and in the 13 who had dual pathology. In patients with a single lesion, 85% were seizure free or significantly improved (Engel's class I-II) when the lesion was totally removed compared with only 40% when there was incomplete resection (p < 0.007). All three patients with dual pathology who had both the lesion and the atrophic hippocampus removed became seizure free. In contrast, only 2 of the 10 patients with dual pathology undergoing surgery aimed at the lesion or at the hippocampus alone became seizure free (p < 0.05), although 4 of them showed significant improvement (Engel's class II). We conclude that the outcome in patients with single epileptogenic lesions is usually dependent upon the completeness of lesion resection. In patients with dual pathology, surgery should, if possible, include resection of both the lesion and the atrophic hippocampus.
MAJOR MESH DESCRIPTORS: *Epilepsies,-Partial-pathology; *Epilepsies,-Partial-surgery; *Hippocampus-pathology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Aged-; Atrophy-; Child-; Middle-Age; Treatment-Outcome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology; surgery
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97193143
RECORD FEATURES: ABSTRACT (AB)
Record 45 of 54 in MEDLINE (R) 1997 Part A
TITLE: Contribution of medial versus lateral temporal-lobe structures to human odour identification.
AUTHOR: Jones-Gotman,-M; Zatorre,-R-J; Cendes,-F; Olivier,-A; Andermann,-F; McMackin,-D; Staunton,-H; Siegel,-A-M; Wieser,-H-G
ADDRESS OF AUTHOR: McGill University, Montreal, Quebec, Canada.
SOURCE: Brain. 1997 Oct; 120 ( Pt 10)1845-56
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8950
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: To investigate possible distinct contributions of different temporal-lobe structures to odour identification, the University of Pennsylvania Smell Identification Test was administered monorhinally to seizure-free patients who had undergone one of three types of temporal-lobe resection practised in three different institutions for surgical treatment of epilepsy. The resections were neocorticectomy (Dublin), selective amygdalohippocampectomy (Zurich), or anterior temporal-lobe resection with encroachment on amygdala and hippocampus (Montreal). Resections, analysed from MRI scans, showed unexpected encroachment on medial structures in most patients of the neocorticectomy groups, and largest amygdala and hippocampal resections in the amygdalohippocampectomy groups. Impaired odour identification was observed in all patient groups, irrespective of surgical approach, with greatest impairment in the nostril ipsilateral to the resection. The finding of deficits in all three surgical groups suggests that damage in the anterior temporal area, perhaps in piriform cortex, is sufficient to disrupt performance on this task; it may be that function is disrupted in the medial temporal-lobe region by disconnection when the periamygdaloid area is damaged, even when amygdala and hippocampus are left intact. An alternative explanation for our results is that damage in any one of these areas disrupts a complex network involving several distinct temporal-lobe structures.
MAJOR MESH DESCRIPTORS: *Smell-physiology; *Temporal-Lobe-physiology
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Epilepsy-surgery; Magnetic-Resonance-Imaging; Middle-Age; Postoperative-Period; Reference-Values; Temporal-Lobe-pathology; Temporal-Lobe-surgery
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: surgery; physiology; pathology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 98032078
RECORD FEATURES: ABSTRACT (AB)
Record 46 of 54 in MEDLINE (R) 1997 Part A
TITLE: Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
AUTHOR: O'Rawe,-A; Mitchison,-H-M; Williams,-R; Wheeler,-R; Andermann,-E; Andermann,-F; Hart,-Y-M; Martin,-J-J; Philippart,-M; Stephenson,-J-B; Gardiner,-R-M; Mole,-S-E
ADDRESS OF AUTHOR: Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
SOURCE: Neuropediatrics. 1997 Feb; 28(1): 21-2
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: A number of variant forms of the neuronal ceroid lipofuscinoses (NCL) have been described and remain unmapped. The genes for infantile (CLN1), juvenile (CLN3) and Finnish-variant late-infantile (CLN5) have previously been mapped to chromosome regions 1p32, 16p12 and 13q21.1-32 respectively. The locus for a variant form of juvenile onset NCL characterised by cytosomal granular osmiophilic deposits (GROD) has been excluded from the CLN3 region of chromosome 16. This study describes the outcome of genetic linkage analysis in four families with this variant at the loci for the CLN1 and CLN5 genes. Using highly informative microsatellite markers tightly linked to the CLN5 locus we have excluded the JNCL variant with GROD from this region. Marker typing across the CLN1 region suggests that JNCL with GROD may be an allelic variant of infantile NCL.
MAJOR MESH DESCRIPTORS: *Chromosome-Mapping; *Cytoplasmic-Granules-genetics; *Linkage-Genetics-genetics; *Neuronal-Ceroid-Lipofuscinosis-genetics; *Variation-Genetics
MINOR MESH DESCRIPTORS: Adolescence-; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-1; Chromosomes,-Human,-Pair-13; Chromosomes,-Human,-Pair-16; Cyclins-genetics; Cytoplasmic-Granules-pathology; Europe-; Fungal-Proteins-genetics; Genetic-Markers-genetics; Infant-; Neuronal-Ceroid-Lipofuscinosis-diagnosis; Neuronal-Ceroid-Lipofuscinosis-pathology; Pedigree-; United-States
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; pathology; diagnosis
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: CLN3-protein; Cyclins; Fungal-Proteins; Genetic-Markers
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97295724
RECORD FEATURES: ABSTRACT (AB)
Record 47 of 54 in MEDLINE (R) 1997 Part A
TITLE: Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
AUTHOR: Ross,-M-E; Allen,-K-M; Srivastava,-A-K; Featherstone,-T; Gleeson,-J-G; Hirsch,-B; Harding,-B-N; Andermann,-E; Abdullah,-R; Berg,-M; Czapansky-Bielman,-D; Flanders,-D-J; Guerrini,-R; Motte,-J; Mira,-A-P; Scheffer,-I; Berkovic,-S; Scaravilli,-F; King,-R-A; Ledbetter,-D-H; Schlessinger,-D; Dobyns,-W-B; Walsh,-C-A
ADDRESS OF AUTHOR: Department of Neurology, UMHC, Minneapolis, MN 55455, USA.
SOURCE: Hum-Mol-Genet. 1997 Apr; 6(4): 555-62
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: While disorders of neuronal migration are associated with as much as 25% of recurrent childhood seizures, few of the genes required to establish neuronal position in cerebral cortex are known. Subcortical band heterotopia (SBH) and lissencephaly (LIS), two distinct neuronal migration disorders producing epilepsy and variable cognitive impairment, can be inherited alone or together in a single pedigree. Here we report a new genetic locus, XLIS, mapped by linkage analysis of five families and physical mapping of a balanced X;2 translocation in a girl with LIS. Linkage places the critical region in Xq21-q24, containing the breakpoint that maps to Xq22.3-q23 by high-resolution chromosome analysis. Markers used for somatic cell hybrid and fluorescence in situ hybridization analyses place the XLIS region within a 1 cM interval. These data suggest that SBH and X-linked lissencephaly are caused by mutation of a single gene, XLIS, that the milder SBH phenotype in females results from random X-inactivation (Lyonization), and that cloning of genes from the breakpoint region on X will yield XLIS.
MAJOR MESH DESCRIPTORS: *Cerebral-Cortex-abnormalities; *Linkage-Genetics; *Sex-Chromosome-Abnormalities-genetics; *X-Chromosome-genetics
MINOR MESH DESCRIPTORS: Cerebral-Cortex-pathology; Chromosome-Mapping; Chromosomes,-Human,-Pair-2-genetics; Dosage-Compensation-Genetics; Epilepsy-etiology; Epilepsy-genetics; Hybrid-Cells; In-Situ-Hybridization,-Fluorescence; Karyotyping-; Pedigree-; Phenotype-; Restriction-Mapping; Translocation-Genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; genetics; etiology
CONTRACT OR GRANT NUMBERS: NS32457NSNINDS; NS35515NSNINDS
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97252389
RECORD FEATURES: ABSTRACT (AB)
Record 48 of 54 in MEDLINE (R) 1997 Part A
TITLE: Band heterotopia or double cortex in a male: bridging structures suggest abnormality of the radial glial guide system.
AUTHOR: Ono,-J; Mano,-T; Andermann,-E; Harada,-K; Sakurai,-K; Ikeda,-T; Yoshihara,-N; Shimizu,-K; Okada,-S; Andermann,-F
ADDRESS OF AUTHOR: Division of Pediatrics, Toyomaka Municipal Hospital, Osaka, Japan.
SOURCE: Neurology. 1997 Jun; 48(6): 1701-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A moderately retarded Japanese boy, with a normal male karyotype (46,XY), was diagnosed to have a subcortical band heterotopia or double cortex syndrome. The band heterotopia was relatively thick compared with that of other patients reported. On T2-weighted coronal MR sections, there were numerous radial linear structures between the cortex and the band, probably representing the trace of radial fibers. He had no family members with seizures or mental retardation. Over 50 described patients with this malformation have been female except two patients briefly mentioned by several investigators. Band heterotopia or the double cortex syndrome is inherited as a sex-linked dominant condition. Affected mothers may have affected daughters or sons with lissencephaly, suggesting a link between these disorders. This is the first detailed description of a male with band heterotopia.
MAJOR MESH DESCRIPTORS: *Cell-Movement; *Cerebral-Cortex-abnormalities; *Developmental-Disabilities-radiography; *Mental-Retardation-radiography; *Neuroglia-physiology
MINOR MESH DESCRIPTORS: Cerebral-Cortex-pathology; Child-; Developmental-Disabilities-genetics; Karyotyping-; Magnetic-Resonance-Imaging; Mental-Retardation-genetics; Sex-Factors; Tomography,-X-Ray-Computed
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; genetics; radiography; physiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97335124
RECORD FEATURES: ABSTRACT (AB)
Record 49 of 54 in MEDLINE (R) 1997 Part A
TITLE: Brain structure and epilepsy: the impact of modern imaging.
AUTHOR: Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
SOURCE: AJNR-Am-J-Neuroradiol. 1997 Feb; 18(2): 302-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
COMMENTS: Comment On: AJNR Am J Neuroradiol. 1997 Feb;18(2):291-301
MAJOR MESH DESCRIPTORS: *Brain-pathology; *Epilepsy-diagnosis; *Magnetic-Resonance-Imaging
MINOR MESH DESCRIPTORS: Electroencephalography-; Epilepsy-pathology
CHECKTAGS: Human
PUBLICATION TYPE: Comment; Journal-Article
SUBHEADINGS: pathology; diagnosis
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97265793
Record 50 of 54 in MEDLINE (R) 1997 Part A
TITLE: Hughlings Jackson's deductive science of the nervous system: a product of his thought collective and formative years.
AUTHOR: Andermann,-A-A
ADDRESS OF AUTHOR: Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
SOURCE: Neurology. 1997 Feb; 48(2): 471-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This paper examines the life and work of John Hughlings Jackson (1835-1911), with particular attention to his early years in London, the "thought collective" into which he was initiated, and the consequent social ties, professional interests, hospital affiliations, scientific pursuits, aims, and ambitions that defined his medical career spanning almost half a century. There exists an abundant body of literature on Jackson, although it is far less extensive and substantive than his own writings (about 350 in number) in understanding his position and attitude concerning the study of diseases of the nervous system. This elucidation of the nature Jackson's pursuits throughout his career draws upon primary sources of information-the elaborate writings of Jackson himself and of his Victorian mentors and confreres. The latter constituted Jackson's thought collective, who contributed to a unique and previously undescribed document: Testimonials of Dr. J. Hughlings Jackson, M.D. (London, 1863). These medical men also contributed to the Medical Times and Gazette and belonged to the London Pathological Society and the New Sydenham Society. Jackson's thought collective and their shared beliefs and pursuits were instrumental in shaping Jackson's career as reflected by his later works. Jackson's professional pursuits and extensive writings marked a lifetime dedicated to developing a "Science of the Nervous System" according to a Millian-Spencerian form of deductive reasoning, to ultimately establish a rational basis for the treatment of nervous disease. Jackson and his contemporaries initiated and developed a deductive ideology and methodology that continue to be widely employed by neurologists today, and thus form the basis of the current neurological paradigm.
MAJOR MESH DESCRIPTORS: *Neurology-history
MINOR MESH DESCRIPTORS: Correspondence-history; History-of-Medicine,-19th-Cent.; History-of-Medicine,-20th-Cent.; London-; Writing-history
CHECKTAGS: Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Biography; Historical-Article; Journal-Article
SUBHEADINGS: history
PERSONAL NAME AS SUBJECT: Jackson,-J-H
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97193149
RECORD FEATURES: ABSTRACT (AB)
Record 51 of 54 in MEDLINE (R) 1997 Part A
TITLE: Chronic encephalitis and epilepsy in adults and adolescents: a variant of Rasmussen's syndrome?
AUTHOR: Hart,-Y-M; Andermann,-F; Fish,-D-R; Dubeau,-F; Robitaille,-Y; Rasmussen,-T; Berkovic,-S; Marino,-R; Yakoubian,-E-M; Spillane,-K; Scaravilli,-F
ADDRESS OF AUTHOR: Montreal Neurologica Hospital and Institute, Quebec, Canada.
SOURCE: Neurology. 1997 Feb; 48(2): 418-24
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Chronic encephalitis and epilepsy (Rasmussen's encephalitis) is a rare progressive disorder of uncertain etiology that usually occurs in children, producing focal epilepsy, hemiparesis, and intellectual deterioration. We identified 13 patients in whom seizures developed in adolescence or adulthood with a pathologic picture of chronic encephalitis. The clinical characteristics were more variable than those occurring in children, with the patients falling into three groups: five patients developed seizures in adulthood, but otherwise showed many resemblances to the childhood form; five developed seizures in adolescence, with similar presentation but rather more benign course than in the younger patients; and three presented with clinical features initially suggestive of a tumor. Occipital onset to the seizures appeared to be more common than in the childhood form, and bilateral disease also occurred.
MAJOR MESH DESCRIPTORS: *Encephalitis-diagnosis; *Epilepsy-diagnosis
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Chronic-Disease; Hemiplegia-diagnosis; Intelligence-; Mental-Disorders-diagnosis; Middle-Age; Syndrome-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: diagnosis
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97193140
RECORD FEATURES: ABSTRACT (AB)
Record 52 of 54 in MEDLINE (R) 1997 Part A
TITLE: Specificity of volumetric magnetic resonance imaging in detecting hippocampal sclerosis.
AUTHOR: Watson,-C; Cendes,-F; Fuerst,-D; Dubeau,-F; Williamson,-B; Evans,-A; Andermann,-F
ADDRESS OF AUTHOR: Department of Neurology, Wayne State University School of Medicine, Detroit, Mich, USA.
SOURCE: Arch-Neurol. 1997 Jan; 54(1): 67-73
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9942
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Magnetic resonance imaging (MRI)-based volumetric measurements of the hippocampal formation are useful in detecting unilateral hippocampal sclerosis (HS) in patients with temporal lobe epilepsy. In this pathologic entity, volumetric MRI analysis shows the epileptogenic structure to be atrophic when compared with the normal, nonepileptogenic side. Some authors have suggested that the radiological features of atrophy of medial temporal lobe structures are common in patients with complex partial seizures, but also are seen frequently in other seizure types and can occur even in patients without epilepsy. OBJECTIVE: To determine if seizures originating in extrahippocampal sites cause gliosis, cell loss, and atrophy of medial temporal lobe structures (i.e., HS). METHODS: We studied 110 patients with chronic epilepsy using volumetric MRI measurements of the hippocampal formation. Seventeen patients had pathologically proven HS, 27 patients had seizures due to extratemporal structural lesions, 15 patients had seizures caused by extrahippocampal temporal lobe lesions, 29 patients had primary generalized epilepsy, and 22 patients had secondary generalized epilepsy. RESULTS: All 17 patients with HS showed significantly reduced absolute hippocampal formation volumes of greater than 2 SDs below the mean of the control groups. The preoperative hippocampal formation volume measurements correlated well with the severity of HS on pathological examination. Hippocampal volumes were within the normal range in all patients with primary generalized epilepsy, secondary generalized epilepsy, extratemporal structural lesions, and extrahippocampal temporal lobe lesions. CONCLUSIONS: Seizures originating at extrahippocampal sites do not cause gliosis, cell loss, or atrophy of medial temporal structures. Significant reduction in hippocampal volumes is a specific marker for HS.
MAJOR MESH DESCRIPTORS: *Epilepsy-pathology; *Gliosis-etiology; *Hippocampus-pathology; *Magnetic-Resonance-Imaging
MINOR MESH DESCRIPTORS: Adolescence-; Adult-; Aged-; Atrophy-; Child-; Epilepsy-complications; Gliosis-pathology; Middle-Age
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; pathology; etiology
SUBSET: Abridged-Index-Medicus; Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97159075
RECORD FEATURES: ABSTRACT (AB)
Record 53 of 54 in MEDLINE (R) 1997 Part A
TITLE: Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.
AUTHOR: Guerrini,-R; Dubeau,-F; Dulac,-O; Barkovich,-A-J; Kuzniecky,-R; Fett,-C; Jones-Gotman,-M; Canapicchi,-R; Cross,-H; Fish,-D; Bonanni,-P; Jambaque,-I; Andermann,-F
ADDRESS OF AUTHOR: Institute of Child Neurology and Psychiatry, University of Pisa-IRCCS Stella Maris Foundation, Italy.
SOURCE: Ann-Neurol. 1997 Jan; 41(1): 65-73
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe 9 patients with a bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex, with magnetic resonance imaging findings suggestive of polymicrogyria. No familial distribution or etiologic factors were identified. Location in a watershed area between anterior and posterior cerebral arteries suggests postmigratory perfusion failure as the underlying cause. In most patients the malformation was detected by magnetic resonance imaging after computed tomography scans with 10-mm-thick sections were considered normal. Seizures, present in all, had started between the ages of 20 months and 15 years (mean, 9 years) and were intractable in 7. Complex partial seizures with or without minor automatisms were the most frequent ictal pattern. In only 4 patients these were preceded by symptoms indicating posterior onset. Interictal electroencephalograms showed both diffuse and bilateral parietooccipital or temporal abnormalities. The range of IQ scores indicated average intelligence to mild retardation. Several patients presented deficits on neuropsychological tasks requiring performance under time constraints, suggesting that the malformation may result in cognitive slowing. Early diagnosis of this malformation may be difficult because of the lack of neurological signs, relatively late seizure onset, difficulty in localizing seizure onset, and inability to recognize the cortical abnormality on computed tomography scans.
COMMENTS: Comment In: Ann Neurol. 1997 Aug;42(2):272-3
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Epilepsy-pathology
MINOR MESH DESCRIPTORS: Adolescence-; Child-; Electroencephalography-; Epilepsy-physiopathology; Infant-; Magnetic-Resonance-Imaging; Occipital-Lobe; Parietal-Lobe
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; pathology; physiopathology
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97158507
RECORD FEATURES: ABSTRACT (AB)
Record 54 of 54 in MEDLINE (R) 1997 Part A
TITLE: Human epileptogenesis and hypothalamic hamartomas: new lessons from an experiment of nature.
AUTHOR: Berkovic,-S-F; Kuzniecky,-R-I; Andermann,-F
SOURCE: Epilepsia. 1997 Jan; 38(1): 1-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1997
LANGUAGE: English
COUNTRY OF PUBLICATION: UNITED-STATES
MAJOR MESH DESCRIPTORS: *Epilepsy-etiology; *Hamartoma-complications; *Hypothalamic-Diseases-complications
CHECKTAGS: Human
PUBLICATION TYPE: Editorial; Review; Review,-Tutorial
SUBHEADINGS: etiology; complications
SUBSET: Index-Medicus
UPDATE CODE: 20001218
ACCESSION NUMBER: 97176640