The following MEDLINE items were compiled by SilverPlatter and are presented here with their generous permission and cooperation. (See SilverPlatter's Worldwide Library for bibliographic search information.)
or
Record 1 of 40 in MEDLINE EXPRESS (R) 2000/11-2000/12
TITLE: Neuronal migration disorder in Zellweger mice is secondary to glutamate receptor dysfunction.
AUTHOR(S): Gressens-P; Baes-M; Leroux-P; Lombet-A; Van-Veldhoven-P; Janssen-A; Vamecq-J; Marret-S; Evrard-P
ADDRESS OF AUTHOR: INSERM E 9935 and Service de Neurologie Pediatrique, Hopital Robert-Debre, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 2000 Sep; 48(3): 336-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Disorders of neuronal migration in cerebral cortex are associated with neurological impairments, including mental retardation and epilepsy. Their causes and pathophysiology remain largely unknown, however. In patients with Zellweger disease, a lethal panperoxisomal disorder, and in mice lacking the Pxr1 import receptor for peroxisomal matrix proteins, the absence of peroxisomes leads to abnormal neuronal migration. Analysis of Pxr1-/- mice revealed that the migration defect was caused by altered N-methyl-D-aspartate (NMDA) glutamate receptor-mediated calcium mobilization. This NMDA receptor dysfunction was linked to a deficit in platelet-activating factor, a phenomenon related to peroxisome impairment. These findings confirm NMDA receptor involvement in neuronal migration and suggest a link between peroxisome metabolism and NMDA receptor efficacy.
MINOR MESH HEADINGS: Animal-; Autoradiography-; Calcium-metabolism; Dizocilpine-Maleate-pharmacology; Female-; Male-; Mice-; Neurons-metabolism; Receptors,-GABA-metabolism; Receptors,-N-Methyl-D-Aspartate-metabolism; Support,-Non-U.S.-Gov't
MAJOR MeSH HEADINGS: *Cell-Movement-physiology; *Neurons-physiology; *Receptors,-Glutamate-physiology; *Zellweger-Syndrome-metabolism; *Zellweger-Syndrome-physiopathology
CHECKTAGS: Animal; Female; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 7440-70-2; 77086-22-7
NAME OF SUBSTANCE: Receptors,-GABA; Receptors,-Glutamate; Receptors,-N-Methyl-D-Aspartate; Calcium; Dizocilpine-Maleate
MEDLINE ACCESSION NUMBER: 20431152
UPDATE CODE: 200012
Record 2 of 40 in MEDLINE EXPRESS (R) 2000/11-2000/12
TITLE: Temporal lobe epilepsy surgery with limited resources: results and economic considerations.
AUTHOR(S): Campos-MG; Godoy-J; Mesa-MT; Torrealba-G; Gejman-R; Huete-I
ADDRESS OF AUTHOR: Department of Neurosurgery, Pontificia Universidad Catolica de Chile, Santiago.
SOURCE (BIBLIOGRAPHIC CITATION): Epilepsia. 2000; 41 Suppl 4: S18-21
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This study evaluates the surgical outcome of patients with medically refractory temporal lobe epilepsy (TLE) who underwent anterior temporal lobe lobectomy (ATL) based on data derived from noninvasive studies and assesses the economic costs entailed at a newly created epilepsy program in Chile. Seventeen ATL candidates underwent a presurgical evaluation. This included outpatient brain MRI and neuropsychological testing and inpatient scalp/sphenoidal prolonged video-EEG monitoring. There were 10 females and 7 males, with a mean age of 23.8 years and a mean duration of seizure disorder of 12 years. Patients with congruent data localizing the seizure focus to one anterotemporal region underwent ATL. Seven patients underwent a left-side ATL and 10 patients a right-side ATL. The histopathological findings showed a low grade tumor in six patients, hippocampal sclerosis in five, neuronal migration disorder in four, and cavernous angiomas in two patients. The mean follow-up period was 29.1 months. Seizure outcome was assessed with Engel's classification: class I, no seizures or only auras; class II, rare seizures; class III, >90% seizure reduction; class IV, <90% seizure reduction. Fifteen patients are now in class I, one patient in class II, and one in class IV. The total cost, including evaluation and surgery, was equivalent to US$ 5,020. Thus, well-selected TLE patients can derive maximal benefit from ATL after a noninvasive presurgical evaluation. This finding is of great significance for the creation of epilepsy surgery programs in developing countries.
MINOR MESH HEADINGS: Adult-; Brain-Neoplasms-pathology; Developing-Countries-economics; Epilepsy,-Temporal-Lobe-pathology; Female-; Health-Care-Costs; Human-; Laterality-; Magnetic-Resonance-Imaging; Male-; Neuropsychological-Tests; Support,-Non-U.S.-Gov't; Temporal-Lobe-pathology; Treatment-Outcome
MAJOR MeSH HEADINGS: *Epilepsy,-Temporal-Lobe-economics; *Epilepsy,-Temporal-Lobe-surgery; *Temporal-Lobe-surgery
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 20417462
UPDATE CODE: 200011
Record 3 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: A case of Miller-Dieker syndrome in a family with neurofibromatosis type I.
AUTHOR(S): King-A; Upadhyaya-M; Penney-C; Doshi-R
ADDRESS OF AUTHOR: Department of Neuropathology, Institute of Psychiatry, Denmark Hill, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Neuropathol-Berl. 2000 Apr; 99(4): 425-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6322
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. Neurofibromatosis type I (NF1) is an autosomal dominant condition associated with mutations in the long arm of chromosome 17, and characterised by neurofibromas, cafe-au-lait spots and axillary freckling. The neonatal period for a female infant born at 39 weeks gestation by emergency Caesarean section was complicated by frequent epileptic seizures as well as hypotonia. A computed tomography scan revealed evidence of lissencephaly, and chromosomal analysis showed a microdeletion on the short arm of chromosome 17 (17p13.3), confirming the diagnosis as Miller-Dieker syndrome. The child died at the age of 4 years and examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias. The mother had cafe-au-lait spots, and axillary freckling. In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. The child did not possess the mutation. This case illustrates a rare neuronal migration disorder appearing in a child from a family with a history of NF1.
MINOR MESH HEADINGS: Child,-Preschool; Chromosome-Deletion; Chromosomes,-Human,-Pair-17-genetics; Neurofibromatosis-1-genetics; Syndrome-
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Abnormalities,-Multiple-pathology; *Brain-abnormalities; *Brain-pathology; *Neurofibromatosis-1-pathology
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20246723
UPDATE CODE: 200008
Record 4 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Murine modelling of classical lissencephaly.
AUTHOR(S): Gambello-MJ; Hirotsune-S; Wynshaw-Boris-A
ADDRESS OF AUTHOR: National Human Genome Research Institute, Genetic Diseases Research Laboratory, Building 49 Room 4A68, 49 Convent Drive, Bethesda, MD 20892, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Neurogenetics. 1999 Apr; 2(2): 77-86
INTERNATIONAL STANDARD SERIAL NUMBER: 1364-6745
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Classical lissencephaly is a severe human neuronal migration disorder characterized by a smooth cerebral surface and a paucity of gyri. Isolated lissencephaly sequence (ILS, OMIM 601545) and Miller-Dieker syndrome (MDS, OMIM 247200) are human malformation syndromes characterized by classical lissencephaly. MDS and some cases of ILS are caused by haploinsufficiency at chromosome 17p13.3. Recent evidence suggests that mutations or deletions of the LIS1 gene, within band 17p13.3, are responsible for classical lissencephaly. LIS1 codes for a subunit of platelet-activating factor acetylhydrolase isoform 1b (PAFAH1B1 or LIS1). To investigate the pathophysiological mechanisms responsible for these two developmental defects, we have undertaken strategies to model these neuronal migration disorders in the mouse. We present a brief review of MDS and ILS, several mouse mutants with cortical neuronal migration defects, and our strategies to model ILS and MDS in the mouse.
MINOR MESH HEADINGS: Crosses,-Genetic; Mice-; Mice,-Neurologic-Mutants; Syndrome-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Chromosome-Mapping; *Chromosomes,-Human,-Pair-17; *Microtubule-Associated-Proteins-genetics
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-ACADEMIC
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: LIS1-protein; Microtubule-Associated-Proteins
MEDLINE ACCESSION NUMBER: 20184295
UPDATE CODE: 200006
Record 5 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: The function of presenilin-1 in amyloid beta-peptide generation and brain development.
AUTHOR(S): Saftig-P; Hartmann-D; De-Strooper-B
ADDRESS OF AUTHOR: Zentrum Biochemie und Molekulare Zellbiologie, Abteilung Biochemie II, Universitat Gottingen, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-Arch-Psychiatry-Clin-Neurosci. 1999; 249(6): 271-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0940-1334
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Several mutations in genes that cause the familial form of Alzheimer's Disease (FAD) have been identified. All mutations in the three FAD genes, i.e., amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2) cause an increased production of a longer, more amyloidogenic form of the amyloid peptide corroborating strongly the idea that abnormal processing of APP is central to the pathogenesis. In PS-1 deficient mice, 80% less amyloid peptide was produced. Instead, membrane associated carboxyterminal fragments generated by (alpha- and beta-secretase accumulated suggesting that PS-1 is involved in the gamma-secretase activity cleaving the transmembrane domain of APP after alpha- and beta-secretase cleavage has occured. The clinical mutations in PS-1 which increase the production of betaA41-42 therefore seem to cause a "selective" gain of its normal function. During cortical plate development in PS-1-deficient mice, neurons do not terminate their movement at the outer margin of the cortical plate, but enter the marginal zone and subarachnoid space. These focal heterotopias closely resemble those occuring, e.g., in human lissencephaly type II. The extracellular matrix of the cortical plate and marginal zone was altered as a consequence of a loss of Cajal-Retzius (CR) neurons from the marginal zone. The pathogenesis of this neuronal migration disorder is associated with a reduction and redistribution of notch- immunoreactivity in CR- and cortical plate neurons, a cell surface receptor operative in cell fate selection, which similar to APP is cleaved in its transmembrane domain during activation by a gamma-secretase like protease.
MINOR MESH HEADINGS: Alzheimer-Disease-embryology; Alzheimer-Disease-genetics; Amyloid-beta-Protein-genetics; Cerebral-Cortex-blood-supply; Endopeptidases-metabolism; Fibroblasts-metabolism; Gene-Expression-Regulation,-Developmental; Membrane-Proteins-genetics; Mice-; Mice,-Knockout
MAJOR MeSH HEADINGS: *Alzheimer-Disease-metabolism; *Amyloid-beta-Protein-biosynthesis; *Brain-Chemistry-genetics; *Cerebral-Cortex-abnormalities; *Membrane-Proteins-metabolism; *Mutation-
CHECKTAGS: Animal; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.4.-; EC 3.4.99.-; 0; 0; 0
NAME OF SUBSTANCE: Endopeptidases; secretase; Amyloid-beta-Protein; Membrane-Proteins; S182-protein
MEDLINE ACCESSION NUMBER: 20117007
UPDATE CODE: 200005
Record 6 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Genetic and neuroradiological heterogeneity of double cortex syndrome.
AUTHOR(S): Gleeson-JG; Luo-RF; Grant-PE; Guerrini-R; Huttenlocher-PR; Berg-MJ; Ricci-S; Cusmai-R; Wheless-JW; Berkovic-S; Scheffer-I; Dobyns-WB; Walsh-CA
ADDRESS OF AUTHOR: Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 2000 Feb; 47(2): 265-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 2000
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to examine why a significant percentage of sporadic DC patients had been found not to harbor doublecortin mutations and to determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between patients with and without doublecortin mutations. Magnetic resonance imaging scan analysis differentiated patients into the following four groups: anterior biased/global DC with doublecortin mutation (16 of 30; 53%), anterior biased/global DC without mutation (8 of 30; 27%), posterior biased DC without mutation (3 of 30; 10%), and limited/unilateral DC without mutation (3 of 30; 10%). The presence of these atypical phenotypes suggests that other genetic loci or mosaicism at the doublecortin locus may be responsible for this diversity of DC cases.
MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-pathology; Child-; Child,-Preschool; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-pathology; *Mutation-; *Neuropeptides-genetics
CHECKTAGS: Female; Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RO1NS35129NSNINDS; R01NS35515NSNINDS; 5K12NS0170104NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: doublecortin-protein; Neuropeptides
MEDLINE ACCESSION NUMBER: 20127269
UPDATE CODE: 200004
Record 7 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Nontumoral occipitotemporal epilepsy: localizing findings and surgical outcome.
AUTHOR(S): Aykut-Bingol-C; Spencer-SS
ADDRESS OF AUTHOR: Department of Neurology, Yale University School of Medicine, New Haven, CT 06520-8018, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 1999 Dec; 46(6): 894-900
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe a syndrome of medically intractable occipitotemporal epilepsy of nontumoral developmental origin and its treatment by surgery. From our epilepsy surgery database of 1988 to 1996, we selected all patients without neoplasm who had at least two characteristics localizing to the occipital lobe (clinical symptoms, interictal focus, ictal onset, or a lesion on magnetic resonance imaging scanning) and one to the temporal lobe (interictal spikes or seizure onset). We discuss seizure characteristics, electroencephalographic (EEG), magnetic resonance imaging, positron emission tomographic, and single-photon emission computed tomographic findings, pathological findings, surgical approach, outcome from resective surgery, and implications for pathophysiology. Sixty-nine percent of our 16 patients with occipitotemporal syndrome had neuronal migration disorder, suggesting a developmental etiology of this entity. Initial signs or symptoms suggested occipital lobe seizure onset in 13 of 16 patients. On scalp EEG, interictal spikes were localized to the temporal lobe in 9 and to the occipital lobe in 1; seizure onset was poorly localized. Intracranial EEG localized seizure onset to the area of temporo-occipital junction in 77% of patients. Positron emission tomography and single-photon emission computed tomography showed occipital and temporal or widespread deficits, and neuropsychological performance was diffusely abnormal. Surgical results were best with occipital and temporal resections, but sometimes satisfactory after occipital resection even with temporal (ipsilateral) EEG findings. Temporal resection with hippocampectomy uniformly failed to control seizures. An often refractory, probably developmental epileptic syndrome with regional occipitotemporal distribution can be diagnosed by a specific constellation of findings, which has implications for treatment and pathophysiology.
MINOR MESH HEADINGS: Adolescence-; Adult-; Brain-pathology; Brain-radionuclide-imaging; Electroencephalography-; Epilepsies,-Partial-diagnosis; Epilepsy,-Temporal-Lobe-diagnosis; Magnetic-Resonance-Imaging; Middle-Age; Neuropsychological-Tests; Retrospective-Studies; Tomography,-Emission-Computed; Tomography,-Emission-Computed,-Single-Photon
MAJOR MeSH HEADINGS: *Epilepsies,-Partial-physiopathology; *Epilepsies,-Partial-surgery; *Epilepsy,-Temporal-Lobe-physiopathology; *Epilepsy,-Temporal-Lobe-surgery
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20055459
UPDATE CODE: 200002
Record 8 of 40 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation.
AUTHOR(S): Brackley-KJ; Farndon-PA; Weaver-JB; Dow-DJ; Chapman-S; Kilby-MD
ADDRESS OF AUTHOR: Department of Fetal Medicine, Birmingham Women's Hospital, Edgbaston, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Prenat-Diagn. 1999 Jun; 19(6): 575-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using DNA linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. Magnetic resonance imaging at 26 weeks indicated the possibility of poor gyral formation consistent with a neuronal migration disorder. Cardiac rhabdomyomata were not visualized on ultrasound scan until 30 weeks' gestation. Postnatal cranial ultrasound confirmed the significant neuropathology which was manifested by severe developmental delay and intractable fits in the child. The potential benefits of earlier diagnosis of tuberous sclerosis by cranial imaging are discussed, although in this patient the routine booking scan resulted in a path of prenatal diagnosis being undertaken which had originally been declined. A mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered TSC2 activity affecting neuronal migration.
MINOR MESH HEADINGS: Adult-; Infant-; Magnetic-Resonance-Imaging; Pedigree-; Pregnancy-; Pregnancy-Trimester,-First; Tuberous-Sclerosis-ultrasonography
MAJOR MeSH HEADINGS: *Fetal-Diseases-diagnosis; *Linkage-Genetics; *Prenatal-Diagnosis-methods; *Tuberous-Sclerosis-diagnosis
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99343420
UPDATE CODE: 200002
Record 9 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Olfactory bulb dysplasia: a novel subtype of neuronal migration disorder.
AUTHOR(S): Yamanouchi-H; Hirato-J; Yokoo-H; Nako-Y; Morikawa-A; Nakazato-Y
ADDRESS OF AUTHOR: First Department of Pathology, Gunma University School of Medicine, Maebashi, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Neurol. 1999 Nov; 46(5): 783-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0364-5134
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We present a novel subtype of neuronal migration disorder found in a case of Pena-Shokeir phenotype, in which the deformation sequence originated from neurogenic fetal akinesia. The autopsied brain showed dysplastic features of dentate and olivary nuclei as well as a bilaterally enlarged olfactory bulb with abnormal laminar structures. The laminar structures comprised four layers: (1) a superficial layer without glomeruli, (2) a neuronal cell layer containing neurons simulating mitral cells, (3) a sparse cell layer enriched with tangential neuronal fibers, and (4) a reticular layer showing a mottled appearance with the accumulation of fine reticular neurites intermingled with granule cells. To our knowledge, these malformed laminar changes have never been reported, and we propose the term olfactory bulb dysplasia.
MINOR MESH HEADINGS: Autopsy-; Brain-pathology; Dentate-Gyrus-abnormalities; Fatal-Outcome; Infant,-Newborn; Laterality-; Neurons-pathology; Olfactory-Bulb-pathology; Olivary-Nucleus-abnormalities
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Olfactory-Bulb-abnormalities
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20019426
UPDATE CODE: 200001
Record 10 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
AUTHOR(S): Cormand-B; Avela-K; Pihko-H; Santavuori-P; Talim-B; Topaloglu-H; de-la-Chapelle-A; Lehesjoki-AE
ADDRESS OF AUTHOR: Department of Medical Genetics, University of Helsinki, Finland.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Jan; 64(1): 126-35
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). Whereas the gene underlying FCMD has been mapped and cloned, the genetic location of the WWS gene is still unknown. Here we report the assignment of the MEB gene to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected individuals. After a genomewide search for linkage in four affected sib pairs had pinpointed the assignment to 1p, the MEB locus was more precisely assigned to a 9-cM interval flanked by markers D1S200 proximally and D1S211 distally. Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings provide a starting point for the positional cloning of the disease gene, which may play an important role in muscle function and brain development. It also provides an opportunity to test other congenital muscular dystrophy phenotypes, in particular WWS, for linkage to the same locus.
MINOR MESH HEADINGS: Brain-abnormalities; Chromosome-Banding; Haplotypes-; Homozygote-; Linkage-Disequilibrium; Lod-Score; Magnetic-Resonance-Imaging; Microsatellite-Repeats; Molecular-Sequence-Data; Pedigree-; Syndrome-
MAJOR MeSH HEADINGS: *Blindness-genetics; *Chromosome-Mapping; *Chromosomes,-Human,-Pair-1; *Linkage-Genetics; *Mental-Retardation-genetics; *Muscle-Hypotonia-genetics; *Muscular-Dystrophies-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99115089
UPDATE CODE: 199905
SECONDARY SOURCE IDENTIFIER: GDB/1P32; GDB/1P33; GDB/1P34
Record 11 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Outcome of bilateral periventricular nodular heterotopia in monozygotic twins with megalencephaly.
AUTHOR(S): Jan-MM
ADDRESS OF AUTHOR: Department of Paediatrics, King Abdulaziz University Hospital, Kingdom of Saudi Arabia.
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Med-Child-Neurol. 1999 Jul; 41(7): 486-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-1622
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Bilateral periventricular nodular heterotopia (BPNH) is a neuronal migration disorder, characterized by grey-matter cellular rests in the periventricular regions. Patients frequently present with seizures during childhood or later in life. Monozygotic twin sisters were found to have enlarged head circumferences (>95th centile) during a routine medical visit at 6 months of age. A brain CT scan revealed grey-matter cellular rests in the subependymal regions extending to the subcortical white matter. In some areas these cell aggregates had nodular margins, consistent with the diagnosis of BPNH. At 6 years of age they are cognitively and neurologically normal. They have not had any seizures and their heads continue to grow along the 95th centile.
MINOR MESH HEADINGS: Brain-Diseases-radiography; Cell-Movement; Cephalometry-; Follow-Up-Studies; Infant-; Seizures-etiology; Tomography,-X-Ray-Computed; Twins,-Monozygotic
MAJOR MeSH HEADINGS: *Brain-Diseases-pathology; *Cerebral-Ventricles-abnormalities
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; TWIN-STUDY
MEDLINE ACCESSION NUMBER: 99382036
UPDATE CODE: 199911
Record 12 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Outcome of epilepsy surgery in the first three years of life.
AUTHOR(S): Sugimoto-T; Otsubo-H; Hwang-PA; Hoffman-HJ; Jay-V; Snead-OC-3rd
ADDRESS OF AUTHOR: Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Epilepsia. 1999 May; 40(5): 560-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0013-9580
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: We analyzed our experience over a 6-year period with early-childhood patients who had undergone epilepsy surgery, and investigated the surgical outcomes. METHOD: We reviewed the medical records of 23 children, ages 0-3 years, who underwent epilepsy surgery between 1991 and 1996. RESULTS: Twenty children had partial seizures; two had infantile spasms; and one had generalized tonic-clonic seizures at onset. The mean age at onset of seizures was 4.7 months, and the mean age at time of surgery was 15.3 months. A total of 32 operations (21 focal cortical resections and 11 hemispherectomies) was performed. Five of 12 children with seizures secondary to a neuronal migration disorder had reoperations, including three who ultimately underwent complete hemispherectomy. The pathology consisted of hemimegalencephaly in three patients, focal cortical dysplasia (FCD) in eight, tuberous sclerosis in one, Sturge-Weber syndrome (SWS) in five, infarction in two, low-grade glioma (LGG) in three, and post-herpes simplex virus encephalitis (HSE) in one. The follow-up period ranged from 1 to 6.5 years (mean, 3.2 years) from patients' last operation. The seizure outcome according to Engel's criteria was class I in 12 patients, class II in three, class III in six and class IV in two. CONCLUSIONS: Seizure outcomes after surgery were less favorable in infants with FCD than in those with SWS and LGG. Seizure outcome for the patients with hemispherectomies was excellent, compared with those who had focal cortical resections.
MINOR MESH HEADINGS: Age-Factors; Cerebral-Cortex-surgery; Child,-Preschool; Follow-Up-Studies; Infant-; Treatment-Outcome
MAJOR MeSH HEADINGS: *Brain-surgery; *Epilepsy-surgery
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99313095
UPDATE CODE: 199909
Record 13 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
AUTHOR(S): Suzuki-Y; Zhang-Z; Shimozawa-N; Muro-M; Shono-H; Toda-S; Miyahara-S; Hashimoto-T; Usuda-N; Ito-M; Takashima-S; Kondo-N
ADDRESS OF AUTHOR: Department of Pediatrics, Gifu University School of Medicine, Japan. ysuz@cc.gifu-u.ac.jp
SOURCE (BIBLIOGRAPHIC CITATION): J-Hum-Genet. 1999; 44(3): 143-7
INTERNATIONAL STANDARD SERIAL NUMBER: 1434-5161
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: The prenatal diagnosis of peroxisomal D-3-hydroxyacyl-coenzyme A (CoA) dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-BP) deficiency was performed by peroxisomal beta-oxidation assay, indirect immunofluorescence staining, immunoblot analysis, and gene analysis of cultured amniocytes obtained from a fetus at 16 weeks' gestational age. beta-Oxidation activity, measured by [1-14C] lignoceric acid oxidation, was markedly decreased compared with the controls. Large peroxisomes were readily identified by immunofluorescence staining with anti-human catalase, as was found in the reported patients. Immunoreactive D-BP material was absent on immunoblot analysis and immunofluorescence staining with anti-human D-BP. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis revealed the presence of the same 237-bp deletion in the cDNA as that detected in a sibling (the proband). The autopsied fetus showed the characteristic facial appearance and D-BP was deficient on immunoblot and immunohistopathological studies of the fetal tissues. No neuronal migration disorder was identified. This seems to be the first prenatal diagnosis of D-BP deficiency.
MINOR MESH HEADINGS: Amnion-cytology; Amnion-enzymology; Cells,-Cultured; Fetal-Diseases-enzymology; Fluorescent-Antibody-Technique,-Indirect; Infant,-Newborn; Japan-; Liver-enzymology; Mongoloid-Race; Peroxisomal-Disorders-enzymology; Pregnancy-; Pregnancy-Trimester,-Second
MAJOR MeSH HEADINGS: *Fetal-Diseases-diagnosis; *Hydro-Lyases-deficiency; *Multienzyme-Complexes-deficiency; *Peroxisomal-Disorders-diagnosis; *Prenatal-Diagnosis-methods; *3-Hydroxyacyl-CoA-Dehydrogenases-deficiency
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 1.1.1.35; EC 4.2.1.; 0; 0
NAME OF SUBSTANCE: 3-Hydroxyacyl-CoA-Dehydrogenases; Hydro-Lyases; D-3-hydroxyacyl-CoA-dehydratase-D-3-hydroxyacyl-CoA-dehydrogenase-bifunctional-potein; Multienzyme-Complexes
MEDLINE ACCESSION NUMBER: 99253134
UPDATE CODE: 199908
Record 14 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
AUTHOR(S): Pilz-DT; Matsumoto-N; Minnerath-S; Mills-P; Gleeson-JG; Allen-KM; Walsh-CA; Barkovich-AJ; Dobyns-WB; Ledbetter-DH; Ross-ME
ADDRESS OF AUTHOR: Department of Human Genetics, University of Chicago, 924 East 57th Street, R113, Chicago, IL 60637, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1998 Dec; 7(13): 2029-37
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. Mutations of LIS1 were found by sequencing ( n = 8) and Southern blot ( n = 2) in a total of 10 patients (40%) of both sexes and mutations of XLIS in five males (20%). Combined with previous data, deletions or mutations of these two genes account for approximately 76% of isolated LIS. These data demonstrate that LIS1 and XLIS mutations cause the majority of, though not all, human LIS. The mutations in LIS1 were predicted to result in protein truncation in six of eight patients and splice site mutations in two, all of which disrupt one or more of the seven WD40 repeats contained in the LIS1 protein. Point mutations in XLIS identified the C-terminal serine/proline-rich region as potentially important for protein function. The patients with mutations were included in a genotype-phenotype analysis of 32 subjects with deletions or other mutations of these two genes. Whereas the brain malformation due to LIS1 mutations was more severe over the parietal and occipital regions, XLIS mutations produced the reverse gradient, which was more severe over the frontal cortex. The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Brain-pathology; DNA-chemistry; DNA-genetics; DNA-Mutational-Analysis; Exons-; Genotype-; Introns-; Mental-Retardation-genetics; Mental-Retardation-pathology; Molecular-Sequence-Data; Mutation-; Nervous-System-Malformations-pathology; Phenotype-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Nervous-System-Malformations-genetics; *Neuropeptides-genetics; *Proteins-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: R01NS35515NSNINDS; RO1NS35129NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 9007-49-2
NAME OF SUBSTANCE: doublecortin-protein; LIS1-protein; Neuropeptides; Proteins; DNA
MEDLINE ACCESSION NUMBER: 99036671
UPDATE CODE: 199903
Record 15 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Dysplastic neocortex and subcortical heterotopias in methylazoxymethanol-treated rats: an intracellular study of identified pyramidal neurones.
AUTHOR(S): Sancini-G; Franceschetti-S; Battaglia-G; Colacitti-C; Di-Luca-M; Spreafico-R; Avanzini-G
ADDRESS OF AUTHOR: Istituto Nazionale Neurologico C. Besta Laboratorio di Neurofisiologico, Sperimentale, Milan, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Neurosci-Lett. 1998 May 1; 246(3): 181-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0304-3940
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: IRELAND
ABSTRACT: Intracellular recordings were obtained using biocytin-filled electrodes from 78 neurones located in both dysplastic neocortex and subcortical heterotopic aggregates in a model of neuronal migration disorder induced in rats by means of a double methylazoxymethanol injection given on embryonic day 15. Both regular spiking and intrinsically bursting pyramidal neurones were found in all of the examined structures and were synaptically activated by subcortical stimulation. In a neuronal subpopulation (22%) located in the neocortex as well as in the subcortical heterotopic aggregates, the injection of depolarising current pulses elicited aberrant firing patterns, consisting of repetitive bursts of APs that gradually increased in duration and eventually merged in a long-lasting discharge. The gradual development of this 'excessive' bursting behaviour suggests a progressive run-down of the slow components of the hyperpolarising afterpotential.
MINOR MESH HEADINGS: Cell-Movement-drug-effects; Cerebral-Ventricles-drug-effects; Cerebral-Ventricles-pathology; Cerebral-Ventricles-physiology; Drug-Administration-Schedule; Electric-Stimulation; Embryo-drug-effects; Evoked-Potentials-drug-effects; Evoked-Potentials-physiology; Hippocampus-drug-effects; Hippocampus-pathology; Hippocampus-physiology; Injections,-Intraperitoneal; Maternal-Exposure; Maternal-Fetal-Exchange; Membrane-Potentials-physiology; Methylazoxymethanol-Acetate-administration-and-dosage; Methylazoxymethanol-Acetate-pharmacology; Microelectrodes-; Neocortex-pathology; Neocortex-physiopathology; Neurons-classification; Neurons-drug-effects; Neurons-physiology; Pregnancy-; Pyramidal-Cells-drug-effects; Pyramidal-Cells-pathology; Rats-; Synaptic-Transmission-drug-effects; Synaptic-Transmission-physiology; Time-Factors; Tissue-Culture
MAJOR MeSH HEADINGS: *Choristoma-physiopathology; *Intracellular-Fluid-physiology; *Methylazoxymethanol-Acetate-analogs-and-derivatives; *Neocortex-drug-effects; *Pyramidal-Cells-physiology
CHECKTAGS: Animal; Female
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 590-96-5; 592-62-1
NAME OF SUBSTANCE: methylazoxymethanol; Methylazoxymethanol-Acetate
MEDLINE ACCESSION NUMBER: 99007108
UPDATE CODE: 199908
Record 16 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy.
AUTHOR(S): Wetzburger-CL; Van-Regemorter-N; Szliwowski-HB; Abramowicz-MJ; Van-Bogaert-P
ADDRESS OF AUTHOR: Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1998 Nov; 19(5): 392-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Trichothiodystrophy was diagnosed in a 3-year-old male presenting with speech delay, brittle hair, chronic neutropenia, and a history of febrile convulsions. Cranial magnetic resonance imaging revealed a focal subcortical and periventricular gray matter heterotopia. An acute encephalopathy with status epilepticus and coma occurred when he was 4 years of age during an upper respiratory tract infection. Magnetic resonance imaging revealed multifocal T2-weighted hypersignal lesions involving mainly the thalami, hippocampi, midbrain, and pons. Analysis of cerebrospinal fluid revealed hyperproteinorachia without pleocytosis. Results of an extensive metabolic evaluation of this acute brain injury, resembling the syndrome of acute necrotizing encephalopathy of childhood described in Japan, were negative. Focal neuronal migration disorder and acute encephalopathy with symmetric thalamic involvement are newly described neurologic manifestations of syndromes with trichothiodystrophy, which suggests that these conditions may have a common genetic background.
MINOR MESH HEADINGS: Child,-Preschool; Electroencephalography-; Magnetic-Resonance-Imaging
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-diagnosis; *Brain-Diseases-diagnosis; *Choristoma-diagnosis; *Frontal-Lobe; *Hair-abnormalities
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99094757
UPDATE CODE: 199908
Record 17 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Prenatal sonographic findings associated with sporadic subcortical nodular heterotopia.
AUTHOR(S): Onyeije-CI; Sherer-DM; Jarosz-CJ; Divon-MY
ADDRESS OF AUTHOR: Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Obstet-Gynecol. 1998 May; 91(5 Pt 2): 799-801
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-7844
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: BACKGROUND: Subcortical nodular heterotopia is a neuronal migration disorder of uncertain etiology. This disorder occurs primarily in females and has a familial X-linked dominant inheritance pattern. The predominant symptom associated with heterotopia is seizures. CASE: At 23 weeks' gestation, prenatal sonography disclosed an isoechoic supratentorial intracranial mass causing right-sided shift of midline structures and compression of the contralateral cerebral ventricle. Serial ultrasound examinations of this mass were significant for the absence of invasion into surrounding structures, gross enlargement of cranial biometric parameters, and hydrocephalus and hydrops fetalis. Neonatal magnetic resonance imaging findings were consistent with gray matter heterotopia and were confirmed as such by brain biopsy. CONCLUSION: Subcortical nodular heterotopia manifested unique prenatal sonographic findings. This case suggests the possibility of prenatal diagnosis in families at risk for this lesion.
MINOR MESH HEADINGS: Abnormalities-genetics; Abnormalities-ultrasonography; Adult-; Brain-pathology; Diagnosis,-Differential; Echoencephalography-; Linkage-Genetics; Magnetic-Resonance-Imaging; Pregnancy-; X-Chromosome
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Ultrasonography,-Prenatal
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98231875
UPDATE CODE: 199807
SUBSET: AIM
Record 18 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Familial neuronal migration disorder: subcortical laminar heterotopia in a mother and pachygyria in the son.
AUTHOR(S): Toyama-J; Kasuya-H; Higuchi-S; Kondo-H; Naganuma-Y; Uchiyama-M
ADDRESS OF AUTHOR: Department of Pediatrics, National Niigata Hospital, Kashiwazaki, Japan. jtoyama@css.unc.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1998 Feb 17; 75(5): 481-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe clinical manifestations and magnetic resonance imaging (MRI) findings in a man and his mother who were diagnosed as having a neuronal migration disorder. The son had severe psychomotor retardation and the mother had intractable seizures and mild psychomotor retardation. MRI demonstrated moderate pachygyria in the son and subcortical heterotopia in the mother. In both patients, the frontal parts of the brain were characteristically more affected than any other areas. A dominant pattern of inheritance in the family suggests a genetic role in the underlying cause of the migration disorder. The difference in severity between the two patients also suggests an X-linked dominant inheritance. Our family fits the condition of X-linked lissencephaly.
MINOR MESH HEADINGS: Adult-; Cerebral-Ventricles-abnormalities; Genes,-Dominant; Linkage-Genetics; Magnetic-Resonance-Imaging; Middle-Age; Pedigree-; Seizures-genetics; X-Chromosome
MAJOR MeSH HEADINGS: *Cell-Movement-genetics; *Cerebral-Cortex-abnormalities; *Choristoma-genetics; *Neurons-pathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98149434
UPDATE CODE: 199806
Record 19 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
AUTHOR(S): des-Portes-V; Pinard-JM; Billuart-P; Vinet-MC; Koulakoff-A; Carrie-A; Gelot-A; Dupuis-E; Motte-J; Berwald-Netter-Y; Catala-M; Kahn-A; Beldjord-C; Chelly-J
ADDRESS OF AUTHOR: INSERM U129-ICGM, Faculte de Medecine Cochin, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Cell. 1998 Jan 9; 92(1): 51-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0092-8674
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion.
MINOR MESH HEADINGS: Adolescence-; Amino-Acid-Sequence; Base-Sequence; Cell-Movement-genetics; Cell-Movement-physiology; Central-Nervous-System-metabolism; Cerebral-Cortex-chemistry; Child,-Preschool; Chromosome-Mapping; Chromosomes,-Yeast-Artificial; DNA,-Complementary-analysis; DNA,-Complementary-isolation-and-purification; Family-Health; Gene-Expression-genetics; Molecular-Sequence-Data; Mutation-genetics; Neurons-chemistry; Neurons-physiology; Pedigree-; Peptides-genetics; Sequence-Homology,-Amino-Acid; Sequence-Tagged-Sites; Sex-Chromosome-Abnormalities-genetics; Syndrome-; Transcription,-Genetic-genetics
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Epilepsy-genetics; *Genes,-Structural-genetics; *Neurons-cytology; *Neuropeptides-genetics; *X-Chromosome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: doublecortin-protein; DNA,-Complementary; Neuropeptides; Peptides
MEDLINE ACCESSION NUMBER: 98149343
UPDATE CODE: 199805
SECONDARY SOURCE IDENTIFIER: GENBANK/AJ003112; GENBANK/AJ005591; GENBANK/AJ005592; GENBANK/AJ005593; GENBANK/AJ005594; GENBANK/AJ005595; GENBANK/AJ005596; GENBANK/AJ005597
Record 20 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Platelet-activating factor receptor stimulation disrupts neuronal migration In vitro.
AUTHOR(S): Bix-GJ; Clark-GD
ADDRESS OF AUTHOR: Department of Pediatrics, Neurology, The Cain Foundation Laboratories, Baylor College of Medicine, Houston, Texas 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurosci. 1998 Jan 1; 18(1): 307-18
INTERNATIONAL STANDARD SERIAL NUMBER: 0270-6474
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: LIS-1 is a gene whose hemi-deletion causes the human neuronal migration disorder Miller-Dieker lissencephaly. It encodes a subunit of a brain platelet-activating factor (PAF) acetylhydrolase, an enzyme that inactivates PAF by hydrolyzing the acetyl moiety in the sn2 position of this phospholipid. Because PAF receptor activation has been shown to affect the developing neuronal cytoskeleton, we have hypothesized that a role for PAF in neurodevelopment is that of a modulator of neuroblast movement (a cytoskeletal function) and that an aberrant regulation of PAF could lead to an early arrest in migration. This report examines the effects of the nonhydrolyzable PAF receptor agonist methyl carbamyl PAF (mc-PAF) on the unidirectional in vitro migration of granule cells from cerebellar cell reaggregates on a laminin substrate. Bath treatment with mc-PAF yields a dose-dependent decrease in granule cell migration compared with controls. This effect can be blocked by the simultaneous bath application of BN 52021 and trans-BTD, PAF receptor-specific antagonists. Although mc-PAF minimally inhibited neurite growth, its primary effect was on somal movement along preextended neurites. These experiments suggest that the stimulation of neuronal PAF receptors could be one crucial step for the regulation of neuroblast migration and that disturbed PAF catabolism during neurodevelopment could contribute to the neuronal migration defects observed in Miller-Dieker lissencephaly.
MINOR MESH HEADINGS: Anti-Asthmatic-Agents-pharmacology; Cells,-Cultured; Cerebellum-cytology; Dioxolanes-pharmacology; Lactones-pharmacology; Neurons-drug-effects; Phospholipid-Ethers-pharmacology; Platelet-Activating-Factor-antagonists-and-inhibitors; Rats-; Rats,-Sprague-Dawley
MAJOR MeSH HEADINGS: *Cell-Movement-drug-effects; *Neurons-cytology; *Platelet-Activating-Factor-pharmacology
CHECKTAGS: Animal; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: NS01433NSNINDS; NS37146NSNINDS; HD24064HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0; 0; 111057-91-1; 99796-69-7
NAME OF SUBSTANCE: Anti-Asthmatic-Agents; Dioxolanes; Lactones; Phospholipid-Ethers; Platelet-Activating-Factor; 2,5-bis(3,4,5-trimethoxyphenyl)-1,3-dioxolane; 1-O-hexadecyl-2-N-methylcarbamylphosphatidylcholine; ginkgolide-B
MEDLINE ACCESSION NUMBER: 98075127
UPDATE CODE: 199803
Record 21 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Arterial vascular abnormality accompanying cerebral cortical dysplasia.
AUTHOR(S): Abe-T; Singer-RJ; Marks-MP; Kojima-K; Watanabe-M; Uchida-M; Hayabuchi-N
ADDRESS OF AUTHOR: Department of Radiology, Kurume University, School of Medicine, Fukuoka, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): AJNR-Am-J-Neuroradiol. 1997 Jan; 18(1): 144-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0195-6108
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report a case of dysplastic arterial vascular abnormality in a 32-year-old man with overlying neuronal cell migration disorder. MR images showed a thickened left insular cortex adjacent to the abnormal vascular network. These findings suggest the possibility of leptomeningeal damage during neuronal cell migration as the cause of the overlying vasculopathy. The true pathogenesis of these seemingly associated abnormalities is unknown.
MINOR MESH HEADINGS: Adult-; Cell-Movement-physiology; Cerebral-Cortex-blood-supply; Cerebral-Cortex-pathology; Diagnosis,-Differential; Epilepsy-diagnosis; Head-Injuries,-Closed-diagnosis; Neurons-pathology
MAJOR MeSH HEADINGS: *Cerebral-Angiography; *Cerebral-Cortex-abnormalities; *Intracranial-Arteriovenous-Malformations-diagnosis; *Magnetic-Resonance-Imaging
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97163726
UPDATE CODE: 199706
Record 22 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Morphological study of neocortical areas in Rett syndrome.
AUTHOR(S): Belichenko-PV; Hagberg-B; Dahlstrom-A
ADDRESS OF AUTHOR: Department of Neuronal Structure, Russian Academy of Medical Sciences, Moscow.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Neuropathol-Berl. 1997 Jan; 93(1): 50-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6322
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Various neocortical areas from four females aged 16-24 years with Rett syndrome (RS) were investigated and compared with brains of therapy-resistant partial epilepsy (TRPE) patients (18-25 years), infantile autism (IA), and control brains (24 and 58 years). The cytoarchitecture of area 10 (frontal), area 21 (temporal), area 4 (primary motor cortex), and area 17 (primary visual cortex) was studied by the combined Kluver-Barrera (luxol fast blue and cresyl violet) standard procedure. Autofluorescence of lipofuscin, immunofluorescence of synaptic vesicle proteins [synaptophysin (p38)] and lectin-stained (Wisteria floribunda agglutinin) perineuronal nets (PNs) were studied in the cortices using dual-channel confocal laser scanning microscopy. The brains of RS females show various types of morphological/cytoarchitectonical abnormalities of single pyramidal neurons in layers II-III, and V-VII of different cortical areas. The abnormalities include mild losses of pyramidal neurons, more pronounced in layers II and III than in layers V and VII, and more evident in frontal and temporal areas than in the visual cortex. Microdysgenesis, including abnormalities due to neuronal migration disorders, was not found in RS, in contrast to the observations in TRPE patients, strongly indicating that RS is not a neuronal migration disorder. Lipofuscin distribution was normal but amounts were lower in RS cases than in control and TRPE brains. PNs were less expressed in cortices of the IA case but were clearly overexpressed in the motor cortex of RS. Quantitative analysis of p38 showed a decrease in the area occupied by p38 immunoreactivity by 20-40% in RS compared with controls. It is concluded that RS could best be explained by a postnatal synaptogenic developmental deficiency; the basic defect, however, is still completely unknown.
MINOR MESH HEADINGS: Adolescence-; Adult-; Autistic-Disorder-pathology; Lewy-Bodies-pathology; Microscopy,-Confocal; Middle-Age; Neurofibrillary-Tangles-pathology; Synaptophysin-analysis
MAJOR MeSH HEADINGS: *Cerebral-Cortex-pathology; *Rett-Syndrome-pathology
CHECKTAGS: Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Synaptophysin
MEDLINE ACCESSION NUMBER: 97159317
UPDATE CODE: 199706
Record 23 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up.
AUTHOR(S): Baykan-Kurt-B; Sarp-A; Gokyigit-A; Tuncay-R; Caliskan-A
ADDRESS OF AUTHOR: University of Istanbul, Istanbul Faculty of Medicine, Department of Neurology, Turkey.
SOURCE (BIBLIOGRAPHIC CITATION): Seizure. 1997 Dec; 6(6): 487-93
INTERNATIONAL STANDARD SERIAL NUMBER: 1059-1311
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Congenital bilateral perisylvian syndrome (CBPS) is a recently described, neuronal migration disorder, characterized by pseudobulbar palsy, epilepsy and mental retardation and bilateral perisylvian dysplasia. A 15-year-old boy was diagnosed with CBPS according to the typical clinical, and magnetic resonance imaging (MRI) features. The patient was suffering from atypical absence seizures, repeating daily in spite of antiepileptic drug therapy, since age 7 years. He had also experienced rare generalized tonic-clonic seizures and complex partial seizures. Neurological examination showed severe restriction of tongue movements, severe dysarthria, dysphagia, facial diplegia, mild pyramidal signs and moderate mental retardation. A computed tomographic (CT) scan demonstrated bilateral perisylvian enlargement. The diagnosis was corrected with MRI after six years. Frequent irregular generalized spike and wave abnormalities and focal sharp and slow waves over the posterior regions of both hemispheres were shown by electroencephalograms (EEG). The patient was treated with Na-Valproate, carbamazepine and lamotrigine but did now show any significant change in seizure frequency in the eight-year follow-up period. Intractable seizures, mental retardation and particularly congenital pseudobulbar palsy suggest this congenital entity. Those patients who exhibit these typically clinical features, must have MRI.
MINOR MESH HEADINGS: Adolescence-; Brain-Damage,-Chronic-diagnosis; Brain-Damage,-Chronic-physiopathology; Cerebral-Aqueduct-physiopathology; Epilepsy-diagnosis; Epilepsy-physiopathology; Epilepsy,-Complex-Partial-congenital; Epilepsy,-Complex-Partial-diagnosis; Epilepsy,-Complex-Partial-physiopathology; Epilepsy,-Tonic-Clonic-congenital; Epilepsy,-Tonic-Clonic-diagnosis; Epilepsy,-Tonic-Clonic-physiopathology; Evoked-Potentials-physiology; Follow-Up-Studies; Magnetic-Resonance-Imaging; Mental-Retardation-diagnosis; Mental-Retardation-physiopathology; Neuropsychological-Tests; Paralysis-diagnosis; Paralysis-physiopathology; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-Damage,-Chronic-congenital; *Cerebral-Aqueduct-abnormalities; *Dominance,-Cerebral-physiology; *Electroencephalography-; *Epilepsy-congenital; *Paralysis-congenital
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98189430
UPDATE CODE: 199808
Record 24 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: SPECT and MRI findings in a case of extensive neuronal migration disorder.
AUTHOR(S): Odabasi-Z; Demirkaya-S; Gokcil-Z; Atilla-S; Vural-O; Yardim-M
ADDRESS OF AUTHOR: Department of Neurology, Gulhane Medical School, Ankara, Turkey. zodabasi@obs.gata.edu.tr
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Neurol-Neurosurg. 1997 Dec; 99(4): 276-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0303-8467
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: We report a 20-year-old male with epilepsy, mild mental retardation, growth asymmetry, and MRI and SPECT features of unilateral subcortical ectopic cortex. The neurological examination showed mild growth asymmetry, hemiparesis and hemihypoesthesia and pyramidal signs on the left side. EEG showed focal abnormality in the right frontotemporal region. MRI revealed pachygyria and severe heterotopia associated with some abnormalities of ventricles and cerebellum on the right. Cortical responses were absent on stimulation of the left median and tibial nerves. Central motor conduction time from cortex to left upper extremity was prolonged in magnetic stimulation test. SPECT using 99 mTc-HMPAO revealed increased perfusion of the right subcortical region as compared with those of overlying cortical mantle and opposite hemisphere. To our knowledge, there has been no report documenting such a large and extensive subcortical ectopic cortex which appears as a mass distorting and shifting the middle structure in an adult, such as in our case.
MINOR MESH HEADINGS: Adult-; Brain-pathology; Choristoma-; Electroencephalography-; Epilepsy,-Tonic-Clonic-diagnosis; Evoked-Potentials,-Somatosensory; Median-Nerve-physiopathology; Radiopharmaceuticals-diagnostic-use; Severity-of-Illness-Index; Technetium-Tc-99m-Exametazime-diagnostic-use; Tibial-Nerve-physiopathology
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-radionuclide-imaging; *Cell-Movement; *Magnetic-Resonance-Imaging; *Neurons-; *Tomography,-Emission-Computed,-Single-Photon
CHECKTAGS: Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: Radiopharmaceuticals; Technetium-Tc-99m-Exametazime
MEDLINE ACCESSION NUMBER: 98152005
UPDATE CODE: 199807
Record 25 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder.
AUTHOR(S): Faust-PL; Hatten-ME
ADDRESS OF AUTHOR: Laboratory of Developmental Neurobiology, The Rockefeller University, New York, New York 10021, USA. plf3@columbia.edu
SOURCE (BIBLIOGRAPHIC CITATION): J-Cell-Biol. 1997 Dec 1; 139(5): 1293-305
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9525
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Zellweger syndrome is a peroxisomal biogenesis disorder that results in abnormal neuronal migration in the central nervous system and severe neurologic dysfunction. The pathogenesis of the multiple severe anomalies associated with the disorders of peroxisome biogenesis remains unknown. To study the relationship between lack of peroxisomal function and organ dysfunction, the PEX2 peroxisome assembly gene (formerly peroxisome assembly factor-1) was disrupted by gene targeting. Homozygous PEX2-deficient mice survive in utero but die several hours after birth. The mutant animals do not feed and are hypoactive and markedly hypotonic. The PEX2-deficient mice lack normal peroxisomes but do assemble empty peroxisome membrane ghosts. They display abnormal peroxisomal biochemical parameters, including accumulations of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens. Abnormal lipid storage is evident in the adrenal cortex, with characteristic lamellar-lipid inclusions. In the central nervous system of newborn mutant mice there is disordered lamination in the cerebral cortex and an increased cell density in the underlying white matter, indicating an abnormality of neuronal migration. These findings demonstrate that mice with a PEX2 gene deletion have a peroxisomal disorder and provide an important model to study the role of peroxisomal function in the pathogenesis of this human disease.
MINOR MESH HEADINGS: Adrenal-Glands-pathology; Cell-Movement; Cerebellum-pathology; Cerebral-Cortex-pathology; Cloning,-Molecular; Disease-Models,-Animal; Erythrocytes-chemistry; Fatty-Acids-blood; Liver-pathology; Mice-; Molecular-Sequence-Data; Morphogenesis-genetics; Neurons-; Plasmalogens-analysis; Skull-pathology
MAJOR MeSH HEADINGS: *Brain-pathology; *Membrane-Proteins-genetics; *Mice,-Mutant-Strains; *Microbodies-genetics; *Zellweger-Syndrome-genetics
CHECKTAGS: Animal; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: NS15429NSNINDS
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 135847-86-8
NAME OF SUBSTANCE: Fatty-Acids; Membrane-Proteins; Plasmalogens; peroxisomal-membrane-protein-35
MEDLINE ACCESSION NUMBER: 98044231
UPDATE CODE: 199803
SECONDARY SOURCE IDENTIFIER: GENBANK/AF031128
Record 26 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Predominant localization of the LIS family of gene products to Cajal-Retzius cells and ventricular neuroepithelium in the developing human cortex.
AUTHOR(S): Clark-GD; Mizuguchi-M; Antalffy-B; Barnes-J; Armstrong-D
ADDRESS OF AUTHOR: Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neuropathol-Exp-Neurol. 1997 Sep; 56(9): 1044-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3069
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Mutations that perturb neuronal migration provide important biological clues that can lead to an understanding of the role of specific cells and molecules in the formation of the cortex. The human neuronal migration disorder, Miller-Dieker Lissencephaly, results from a hemideletion of LIS-1, which encodes a subunit of a brain platelet-activating factor acetylhydrolase. The cellular localization of the LIS-1 gene product in human fetal brain and its normal role in neuronal migration have yet to be determined. LIS-1 belongs to a family of genes that have identical coding sequences (LIS-1 [chromosome 17] and LIS-2 [chromosome 2]). In the brain, LIS-1 is the more abundant gene as determined by Northern blot analysis. Using antibodies raised against 2 epitopes of the LIS-1/LIS-2 protein sequence, we have localized the LIS family of gene products in the developing human brain to the Cajal-Retzius cells, some subplate neurons, thalamic neurons, the ventricular neuroepithelium, and at later gestational ages, to the ependyma. Therefore, LIS-1 bears some resemblance to reelin, the gene product involved in the cortical mouse mutant reeler, in that Cajal-Retzius cells demonstrate immunolocalization. However, unlike reelin, LIS proteins are expressed not only in the Cajal Retzius cells, but also in the ventricular neuroepithelium, suggesting a potential role for this structure in neuronal migration.
MINOR MESH HEADINGS: Cerebral-Cortex-cytology; Cerebral-Ventricles-cytology; Embryo-cytology; Embryo-metabolism; Embryo-physiology; Epithelium-cytology; Epithelium-embryology; Epithelium-metabolism; Fetal-Development; Gestational-Age; Neurons-metabolism; Tissue-Distribution
MAJOR MeSH HEADINGS: *Cerebral-Cortex-embryology; *Cerebral-Cortex-metabolism; *Cerebral-Ventricles-embryology; *Cerebral-Ventricles-metabolism; *Proteins-metabolism
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: NS01433NSNINDS; 5P30HD24064HDNICHD; 2P01HD24234HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0
NAME OF SUBSTANCE: LIS1-protein; Proteins
MEDLINE ACCESSION NUMBER: 97437412
UPDATE CODE: 199712
Record 27 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A genetic animal model of human neocortical heterotopia associated with seizures.
AUTHOR(S): Lee-KS; Schottler-F; Collins-JL; Lanzino-G; Couture-D; Rao-A; Hiramatsu-K; Goto-Y; Hong-SC; Caner-H; Yamamoto-H; Chen-ZF; Bertram-E; Berr-S; Omary-R; Scrable-H; Jackson-T; Goble-J; Eisenman-L
ADDRESS OF AUTHOR: Department of Neurological Surgery, University of Virginia Health Sciences Center, Charlottesville, Virginia 22908, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurosci. 1997 Aug 15; 17(16): 6236-42
INTERNATIONAL STANDARD SERIAL NUMBER: 0270-6474
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Malformations of the human neocortex are commonly associated with developmental delays, mental retardation, and epilepsy. This study describes a novel neurologically mutant rat exhibiting a forebrain anomaly resembling the human neuronal migration disorder of double cortex. This mutant displays a telencephalic internal structural heterotopia (tish) that is inherited in an autosomal recessive manner. The bilateral heterotopia is prominent below the frontal and parietal neocortices but is rarely observed in temporal neocortex. Neurons in the heterotopia exhibit neocortical-like morphologies and send typical projections to subcortical sites; however, characteristic lamination and radial orientation are disturbed in the heterotopia. The period of neurogenesis during which cells in the heterotopia are generated is the same as in the normotopic neocortex; however, the cells in the heterotopia exhibit a "rim-to-core" neurogenetic pattern rather than the characteristic "inside-out" pattern observed in normotopic neocortex. Similar to the human syndrome of double cortex, some of the animals with the tish phenotype exhibit spontaneous recurrent electrographic and behavioral seizures. The tish rat is a unique neurological mutant that shares several features with a human cortical malformation associated with epilepsy. On the basis of its regional connectivity, histological composition, and period of neurogenesis, the heterotopic region in the tish rat is neocortical in nature. This neurological mutant represents a novel model system for investigating mechanisms of aberrant neocortical development and is likely to provide insights into the cellular and molecular events contributing to seizure development in dysplastic neocortex.
MINOR MESH HEADINGS: Cerebral-Cortex; Choristoma-complications; Choristoma-physiopathology; Electroencephalography-; Epilepsy-etiology; Epilepsy-physiopathology; Image-Processing,-Computer-Assisted; Magnetic-Resonance-Imaging; Neural-Pathways-physiology; Prosencephalon-embryology; Prosencephalon-pathology; Prosencephalon-physiopathology; Rats-
MAJOR MeSH HEADINGS: *Choristoma-pathology; *Disease-Models,-Animal; *Epilepsy-pathology; *Rats,-Mutant-Strains
CHECKTAGS: Animal; Female; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: NS34124NSNINDS
MEDLINE ACCESSION NUMBER: 97383273
UPDATE CODE: 199710
Record 28 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Coexistence of hemimegalencephaly and chronic encephalitis. Detection of cytomegalovirus by the polymerase chain reaction.
AUTHOR(S): Jay-V; Otsubo-H; Hwang-P; Hoffman-HJ; Blaser-S; Zielenska-M
ADDRESS OF AUTHOR: Department of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Childs-Nerv-Syst. 1997 Jan; 13(1): 35-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0256-7040
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We report the extraordinary association of hemimegalencephaly with chronic encephalitis and cytomegalovirus (CMV) positivity in a 5-month-old infant with intractable seizures and a left hemisphere resection. Microscopy revealed a severe neuronal migration disorder (NMD) with fusion of gyri, marked disarray of neuronal lamination, neuronal gigantism and extensive neuronal heterotopias. Also widespread were microglial nodules, gliosis and nodular calcifications and some foci of frank necrosis with calcification. Occasional perivascular and leptomentingeal lymphocytic infiltrates were present. No viral inclusions were identifiable. Polymerase chain reaction on multiple specimens showed unequivocal CMV positivity. In intrauterine CMV infection. NMDs such as polymicrogyria are well recognized, but the association of hemimegalencephaly with CMV infection has not previously been described. Our finding of chronic encephalitis with CMV positivity and hemimegalencephaly in the same patient raises questions about the role of CMV in the etiopathogenesis of the NMD.
MINOR MESH HEADINGS: Brain-pathology; Brain-surgery; Cerebral-Cortex-abnormalities; Cerebral-Cortex-pathology; Chronic-Disease; Cytomegalovirus-Infections-pathology; Encephalitis,-Viral-pathology; Infant-; Magnetic-Resonance-Imaging; Neurons-pathology; Pregnancy-; Prenatal-Exposure-Delayed-Effects; Risk-Factors
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Cytomegalovirus-Infections-diagnosis; *Dominance,-Cerebral-physiology; *Encephalitis,-Viral-diagnosis; *Polymerase-Chain-Reaction-methods
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97237222
UPDATE CODE: 199708
Record 29 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature.
AUTHOR(S): Shanske-A; Caride-DG; Menasse-Palmer-L; Bogdanow-A; Marion-RW
ADDRESS OF AUTHOR: Department of Pediatrics, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York 10467, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 May 16; 70(2): 155-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarfism. The clinical delineation of this disorder has been inconsistent, using even Seckel's original criteria. As a result, probably fewer than one-third of reported cases are truly affected with SS. Among these, there have been only six familial cases, all of whom were born to normal parents, and in only one case has a detailed description of the central nervous system (CNS) anomalies been given. We describe a family in which three of eight children were affected with SS. CNS anomalies seen in our patients included agenesis of the corpus callosum, a dysgenetic cerebral cortex, a large dorsal cerebral cyst, and pachygyria, suggesting an underlying neuronal migration disorder. The parents are first cousins, representing only the second instance of consanguinity, supporting an autosomal recessive mode of inheritance.
MINOR MESH HEADINGS: Child,-Preschool; Consanguinity-; Infant-; Infant,-Newborn; Pedigree-
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Craniofacial-Abnormalities; *Dwarfism-genetics; *Facies-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97275041
UPDATE CODE: 199708
Record 30 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Pathological spectrum of neuronal migration disorder]
AUTHOR(S): Arai-N; Oda-M
ADDRESS OF AUTHOR: Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience.
SOURCE (BIBLIOGRAPHIC CITATION): No-To-Hattatsu. 1997 Mar; 29(2): 115-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-0831
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: A variety of brain malformative lesions, resulting mainly from abnormalities in neuronal migration, have been recently highlighted with increasing knowledge on surgical pathology of intractable epilepsy. In this article, a wide spectrum of pathology in and around the neuronal migration period are reviewed. Morphological changes of lissencephalies, polymicrogyria, microdysgenesis and focal cortical dysplasia were described, as well as some problems in the classification of malformative brains.
MINOR MESH HEADINGS: Brain-pathology; English-Abstract; Epilepsy-pathology
MAJOR MeSH HEADINGS: *Brain-abnormalities
CHECKTAGS: English-Abstract; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE
MEDLINE ACCESSION NUMBER: 97224805
UPDATE CODE: 199707
Record 31 of 40 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Pathogenesis of the neuronal migration disorder, with special reference to the animal model of prenatal exposure to low-dose ionizing radiation]
AUTHOR(S): Fushiki-S
ADDRESS OF AUTHOR: Department of Dynamic Pathology, Kyoto Prefectural University of Medicine.
SOURCE (BIBLIOGRAPHIC CITATION): No-To-Hattatsu. 1997 Mar; 29(2): 102-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-0831
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Cortical malformations such as cortical dysplasia and heterotopia constitute the underlying pathology of epilepsy and mental retardation. It is thus important to elucidate the pathogenesis of these migration disorders from the neuropathological viewpoint based upon animal experiments. In this review, I describe the experiment in which low-dose prenatal X-or gamma-irradiation was performed at the mid-gestational period of mice or rats. Low-dose irradiation as low as 150 mGy induced decelerated migration of cortical neurons during the embryonic period together with a changed pattern of cell adhesion molecule, N-CAM. In addition, the effect of radiation remained at least up until 3-week postnatal as disorganized neuronal allocation with respect to the birthdate. With time of further maturation in the neocortex, however, the architecture, in terms of the pattern of distribution of the labeled neurons, returned closely to that found in non-irradiated control animals. Considering the fact that the number of labeled cells per unit cortical area decreased considerably from 3-week to 8-week postnatal, it is conceivable that apoptotic cell death might have occurred in aberrantly placed neurons. Recent progress of molecular genetical approach to human hereditary neurodevelopmental diseases is briefly reviewed, since it greatly contributes to our understanding on the pathogenesis of neuronal migration disorders.
MINOR MESH HEADINGS: English-Abstract; Mice-; Radiation,-Ionizing; Rats-
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Embryo-radiation-effects
CHECKTAGS: Animal; English-Abstract; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE
MEDLINE ACCESSION NUMBER: 97224803
UPDATE CODE: 199707
Record 32 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: An unusual type of primary cerebral hemihypotrophy with signs of dysfunctional neuronal migration.
AUTHOR(S): Malandrini-A; Lo-Russo-F; Villanova-M; Salvestroni-R; Sicurelli-F; Salvadori-C; Paolozzi-C; Guazzi-GC
ADDRESS OF AUTHOR: Laboratory of Neuropathology, University of Siena, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Acta-Neuropathol-Berl. 1996 Dec; 92(6): 631-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0001-6322
PUBLICATION YEAR: 1996
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We describe the neuropathological features of a complex brain malformation characterized by cerebral hemihypotrophy with ipsilateral lissencephaly, periventricular nodular heterotopia and macrogyria. The contralateral hemisphere showed only slight alterations of the gyral pattern and a limited periventricular gray matter heterotopia. The clinical picture of the patient, who died at the age of 15 years, consisted of severe oligophrenia, intractable seizures and left hemiparesis. We discuss the nosological status of this neuronal migration disorder of apparently unknown origin.
MINOR MESH HEADINGS: Adolescence-; Cell-Movement; Epilepsy,-Absence-complications; Epilepsy,-Tonic-Clonic-complications; Fatal-Outcome
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-pathology; *Neurons-physiology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97119500
UPDATE CODE: 199705
Record 33 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Neuronal migration disorder presenting with epilepsy: a report of five illustrative cases.
AUTHOR(S): Chee-MW; Chee-TS; Hui-F
ADDRESS OF AUTHOR: Department of Neurology, Singapore General Hospital.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Acad-Med-Singapore. 1995 Nov; 24(6): 887-90
INTERNATIONAL STANDARD SERIAL NUMBER: 0304-4602
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SINGAPORE
ABSTRACT: Neuronal migration disorders are an uncommon but well-recognised cause of medically intractable epilepsy. The increasing availability of magnetic resonance imaging of the brain has made it possible to diagnose this condition ante-mortem. There are several types of migration disorders, each with different radiological and clinical features. A case each of focal cortical dysplasia, focal subcortical heterotopia, double cortex syndrome, periventricular nodular heterotopia and closed lip schizencephaly is presented to highlight the distinctive features of each entity.
MINOR MESH HEADINGS: Adult-; Brain-pathology; Brain-Diseases-diagnosis; Cell-Movement; Cerebral-Cortex-pathology; Cerebral-Ventricles-pathology; Choristoma-complications; Choristoma-diagnosis; Epilepsies,-Partial-etiology; Epilepsy-diagnosis; Epilepsy,-Temporal-Lobe-etiology; Epilepsy,-Tonic-Clonic-etiology; Magnetic-Resonance-Imaging; Middle-Age; Neurons-pathology; Occipital-Lobe-pathology; Septum-Pellucidum-abnormalities; Temporal-Lobe-pathology
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-Diseases-complications; *Epilepsy-etiology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96436117
UPDATE CODE: 199704
Record 34 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study [see comments]
COMMENTS: Comment in: Brain Dev 1995 Jan-Feb;17(1):62-3
AUTHOR(S): Pihko-H; Lappi-M; Raitta-C; Sainio-K; Valanne-L; Somer-H; Santavuori-P
ADDRESS OF AUTHOR: Department of Pediatrics and Child Neurology, Children's Hospital, University of Helsinki, Finland.
SOURCE (BIBLIOGRAPHIC CITATION): Brain-Dev. 1995 Jan-Feb; 17(1): 57-61
INTERNATIONAL STANDARD SERIAL NUMBER: 0387-7604
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
ABSTRACT: We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cataract-complications; Child-; Evoked-Potentials,-Visual; Follow-Up-Studies; Glaucoma-congenital; Magnetic-Resonance-Imaging; Middle-Age; Myopia-etiology; Optic-Atrophy-etiology; Retinal-Degeneration-etiology
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Eye-pathology; *Eye-Abnormalities; *Muscular-Dystrophies-pathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95283010
UPDATE CODE: 199509
Record 35 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder.
AUTHOR(S): Takahashi-S; Miyamoto-A; Oki-J; Saino-T; Inyaku-F
ADDRESS OF AUTHOR: Department of Pediatrics, Asahikawa Medical College, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Neurol. 1995 Sep; 13(2): 175-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A 2-year-old girl with alobar holoprosencephaly associated with facial abnormalities, central diabetes insipidus, and a neuronal migration disorder is reported. The diagnosis of diabetes insipidus was based on low urine osmolality and low plasma ADH concentration during a water deprivation test, and clinical and biochemical improvement after desmopressin acetate administration. Because the posterior portion of the pituitary was located in the sella turcica and the hypothalamo-pituitary stalk was intact, the diabetes insipidus was presumed to have been caused by hypothalamic osmoreceptor dysfunction. MRI findings were compatible with alobar holoprosencephaly. In addition, heterotopic gray matter was recognized as a continuous band over a single ventricle. Defective cleavage of the prosencephalon associated with a neuronal migration disorder is characteristic of alobar holoprosencephaly.
MINOR MESH HEADINGS: Brain-pathology; Brain-Diseases-genetics; Child,-Preschool; Choristoma-genetics; Diabetes-Insipidus-genetics; Holoprosencephaly-genetics; Magnetic-Resonance-Imaging; Neurologic-Examination
MAJOR MeSH HEADINGS: *Brain-Diseases-diagnosis; *Cerebral-Cortex; *Choristoma-diagnosis; *Diabetes-Insipidus-diagnosis; *Holoprosencephaly-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 96100631
UPDATE CODE: 199604
Record 36 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder [see comments]
COMMENTS: Comment in: Neurology 1995 Nov;45(11):2120
AUTHOR(S): Ferrie-CD; Jackson-GD; Giannakodimos-S; Panayiotopoulos-CP
ADDRESS OF AUTHOR: Department of Clinical Neurophysiology and Epilepsy, St. Thomas' Hospital, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1995 Jan; 45(1): 150-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1995
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe two brothers with mental retardation and refractory epilepsy. MRI revealed symmetrical agyria-pachygyria of the temporo-occipito-parietal regions, areas of deeply infolded polymicrogyric parietal cortex, and dilated occipital horns (colpocephaly). The stereotyped clinical, EEG, and MRI findings suggest that this may be a distinct inherited condition and imply that agyria-pachygyria with polymicrogyria is not always sporadic.
MINOR MESH HEADINGS: Brain-pathology; Brain-physiopathology; Child-; Electroencephalography-; Epilepsy-pathology; Epilepsy-physiopathology; Magnetic-Resonance-Imaging; Mental-Retardation-pathology; Mental-Retardation-physiopathology; Neurons-pathology; Occipital-Lobe-abnormalities; Parietal-Lobe-abnormalities; Syndrome-; Temporal-Lobe-abnormalities
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Epilepsy-genetics; *Mental-Retardation-genetics; *Neurons-physiology
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 95124531
UPDATE CODE: 199504
SUBSET: AIM
Record 37 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Hypometabolism and dipole localization in hemimegalencephaly: a case report.
AUTHOR(S): Ohta-Y; Hiraiwa-M; Murayama-K; Nonaka-Mishima-M; Kaneko-Y; Yumoto-M; Yotsumoto-H; Iio-M
ADDRESS OF AUTHOR: Department of Pediatrics, Teikyo University School of Medicine, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropediatrics. 1994 Oct; 25(5): 255-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: A case of hemimegalencephaly was studied by means of neuroimaging (CT, MRI and PET) and magnetoencephalography (MEG). Hemimegalencephaly (HM) is a neuronal migration disorder. This is the first report of evaluation of HM with the use of PET and MEG from not only the morphological but also the functional point of view. PET with 11C-glucose showed a low radioactive concentration in the affected hemisphere, which suggested a metabolic deficit. MEG proved the epileptic foci existed mainly in the affected hemisphere, especially around a heterotopia and the pachygyric cortex, which was disclosed on MRI.
MINOR MESH HEADINGS: Brain-physiopathology; Glucose-metabolism; Infant-; Magnetic-Resonance-Imaging; Tomography,-Emission-Computed; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-abnormalities; *Brain-metabolism; *Magnetoencephalography-
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 50-99-7
NAME OF SUBSTANCE: Glucose
MEDLINE ACCESSION NUMBER: 95191744
UPDATE CODE: 199506
Record 38 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy.
AUTHOR(S): Raymond-AA; Fish-DR; Stevens-JM; Sisodiya-SM; Alsanjari-N; Shorvon-SD
ADDRESS OF AUTHOR: National Hospital for Neurology and Neurosurgery, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Neurol-Neurosurg-Psychiatry. 1994 Oct; 57(10): 1195-202
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3050
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Subependymal heterotopia has recently been recognised as a cause of epilepsy, but the clinical and investigational features have not been fully described. The clinical, psychometric, imaging, and electroencephalographic features of 13 adult patients with subependymal heterotopia and epilepsy have been reviewed. Age at seizure onset ranged from 18 months to 20 years (median 13 years). There were significantly more female (12) than male (1) patients (p < 0.01). Diagnosis of subependymal heterotopia was made by MRI in 11 patients and CT in two. The heterotopic grey matter was nodular in 11 patients and diffuse in two; bilateral in eight and unilateral in five. There were significantly more patients with predominant right than left cerebral hemisphere involvement (p < 0.01). The most commonly involved site was the occipital horn of the lateral ventricles (10 of 13 patients). Eleven patients presented with partial epilepsy, 10 of whom also had secondarily generalised seizures. The clinical description of the seizures often suggested either an occipital (four patients) or temporal (five patients) onset. Two patients presented with absence attacks without clear focal features. Patients demonstrated normal early milestones (12 of 13 patients), including normal motor development (all patients) and average or above average intelligence (10 of 13 patients). An EEG examination showed normal background activity in all but two patients, one of whom had large intracranial haematomas. Epileptiform activity was usually widespread (10 of 13 patients) and in three patients, there was generalised 3-Hz spike and wave activity that had previously led to an erroneous diagnosis of concomitant primary generalised epilepsy.(ABSTRACT TRUNCATED AT 250 WORDS)
MINOR MESH HEADINGS: Adult-; Brain-Diseases-diagnosis; Brain-Diseases-embryology; Cell-Movement; Choristoma-diagnosis; Choristoma-embryology; Electroencephalography-; Ependyma-; Epilepsy-embryology; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Brain-Diseases-complications; *Choristoma-complications; *Epilepsy-etiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 95016771
UPDATE CODE: 199501
Record 39 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Hypomelanosis of Ito: MR findings [see comments]
COMMENTS: Comment in: Pediatr Radiol 1995;25(1):77
AUTHOR(S): Kimura-M; Yoshino-K; Maeoka-Y; Suzuki-N
ADDRESS OF AUTHOR: Department of Pediatrics, National Nishitottori Hospital, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1994; 24(1): 68-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We present a patient with hypomelanosis of Ito who showed extensive white matter lesions on brain MRI. The finding of no apparent demarcation between gray and white matter may indicate a neuronal migration disorder.
MINOR MESH HEADINGS: Adult-; Brain-Diseases-diagnosis; Magnetic-Resonance-Imaging; Pigmentation-Disorders-diagnosis
MAJOR MeSH HEADINGS: *Brain-Diseases-pathology; *Pigmentation-Disorders-pathology
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94277703
UPDATE CODE: 199409
Record 40 of 40 in MEDLINE EXPRESS (R) 1994-1996
TITLE: Double cortex syndrome: electroclinical study of three cases.
AUTHOR(S): Granata-T; Battaglia-G; D'Incerti-L; Franceschetti-S; Zucca-C; Savoiardo-M; Avanzini-G
ADDRESS OF AUTHOR: Istituto Neurologico C. Besta, Milano.
SOURCE (BIBLIOGRAPHIC CITATION): Ital-J-Neurol-Sci. 1994 Feb; 15(1): 15-23
INTERNATIONAL STANDARD SERIAL NUMBER: 0392-0461
PUBLICATION YEAR: 1994
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: We describe three female patients (aged 10, 11 and 21 years) with a Magnetic Resonance appearance of band heterotopia, a diffuse neuronal migration disorder, also known as double cortex syndrome. The clinical picture was characterized by the association of epilepsy and mental retardation in all three cases, as has been previously described in patients with double cortex syndrome. The epileptic syndrome (Lennox-Gastaut syndrome in one case, and symptomatic partial epilepsy in the other two), the response to medical treatment, and the severity of mental retardation were markedly different in the three patients. No clear-cut relationship was found between the clinical picture and the severity of the neuronal migration disorder, as revealed by magnetic resonance imaging. In the three cases, EEG shares some common features: multifocal epileptic activity with frequent bilateral diffusion, and high-amplitude anterior fast activity, intermingled in two patients with bursts of repetitive spikes.
MINOR MESH HEADINGS: Adult-; Alpha-Rhythm; Child-; Electroencephalography-; Epilepsy-physiopathology; Syndrome-
MAJOR MeSH HEADINGS: *Cerebral-Cortex-abnormalities; *Cerebral-Cortex-pathology; *Epilepsy-pathology; *Magnetic-Resonance-Imaging; *Neurons-pathology
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 94266594
UPDATE CODE: 199409