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!
MEDLINE EXPRESS (R) 1/96-11/96 1 of 14
TI: The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q [see comments]
CM: Comment in: Am J Hum Genet 1996 Jan;58(1):7-16
AU: Casaubon-LK; Melanson-M; Lopes-Cendes-I; Marineau-C; Andermann-E; Andermann-F; Weissenbach-J; Prevost-C; Bouchard-JP; Mathieu-J; Rouleau-GA
AD: Centre for Research in Neuroscience, Montreal General Hospital Research Institute, Quebec, Canada.
SO: Am-J-Hum-Genet. 1996 Jan; 58(1): 28-34
ISSN: 0002-9297
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN) is a devastating neurodegenerative disorder that is transmitted as an autosomal recessive trait. Genealogical studies in a large number of affected French Canadian individuals suggest that ACCPN results from a single founder mutation. A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. A maximum two-point LOD score of 11.1 was obtained with the marker D15S971 at a recombination fraction of 0. Haplotype analysis and linkage disequilibrium support a founder effect. These findings are the first step in the identification of the gene responsible for ACCPN, which may shed some light on the numerous conditions associated with the progressive peripheral neuropathy or agenesis of the corpus callosum.
MESH: Chromosome-Mapping; Genetic-Markers; Linkage-Genetics; Lod-Score; Pedigree-; Recombination,-Genetic; Reference-Values; Syndrome-
MESH: *Chromosomes,-Human,-Pair-15; *Corpus-Callosum-abnormalities; *Peripheral-Nervous-System-Diseases-genetics
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0
NM: Genetic-Markers
AN: 96108963
UD: 9604
MEDLINE EXPRESS (R) 1991-1995 2 of 14
TI: Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum [see comments]
CM: Comment in: Am J Obstet Gynecol 1994 Dec;171(6):1677
AU: Vergani-P; Ghidini-A; Strobelt-N; Locatelli-A; Mariani-S; Bertalero-C; Cavallone-M
AD: Department of Obstetrics and Gynecology, Ospedale S. Gerardo, University of Milan, Italy.
SO: Am-J-Obstet-Gynecol. 1994 Mar; 170(3): 753-8
ISSN: 0002-9378
PY: 1994
LA: ENGLISH
CP: UNITED-STATES
AB: OBJECTIVE: Our aim was to determine the accuracy of ultrasonography in the prenatal diagnosis of agenesis of the corpus callosum and to establish whether ultrasonography can provide prognostic indicators in cases of agenesis of the corpus callosum. STUDY DESIGN: Prospective ultrasonographic study of the corpus callosum in all cases during an 8-year period in which fetal cerebral ventriculomegaly was detected. RESULTS: A total of 14 cases of agenesis of the corpus callosum are reported. In seven cases agencies of the corpus callosum was an isolated finding, and in seven cases it was associated with other abnormalities. Six cases involved mendelian syndromes (3 Lissencephaly syndrome, 2 Aicardi syndrome, and 1 Andermann syndrome), and one case was associated with trisomy 13. In 5 of 14 fetuses, all male, agenesis of the corpus callosum was an isolated benign finding. The corpus callosum could never be visualized before midgestation, but diagnosis of agenesis of the corpus callosum was very accurate after 20 weeks. CONCLUSION: Prenatal ultrasonographic findings suggestive of agenesis of the corpus callosum should be followed by a careful search for associated anomalies that may indicate genetic syndromes. Isolated agenesis of the corpus callosum is often an isolated, benign finding, particularly in male fetuses. In families at risk for mendelian syndromes associated with agenesis of the corpus callosum, lack of visualization of this structure is suggestive of the diagnosis.
MESH: Chromosome-Abnormalities; Corpus-Callosum-ultrasonography; Pregnancy-; Prognosis-
MESH: *Corpus-Callosum-abnormalities; *Fetal-Diseases-ultrasonography; *Ultrasonography,-Prenatal
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 94189621
UD: 9406
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 3 of 14
TI: Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy [published erratum appears in Neuropediatrics 1993 Aug;24(4):239] [see comments]
CM: Comment in: Neuropediatrics 1993 Aug;24(4):239
AU: Hauser-E; Bittner-R; Liegl-C; Bernert-G; Zeitlhofer-J
AD: Department of Pediatrics, University of Vienna, Austria.
SO: Neuropediatrics. 1993 Apr; 24(2): 107-10
ISSN: 0174-304X
PY: 1993
LA: ENGLISH
CP: GERMANY
AB: We report on two siblings, a boy and a girl, with agenesis of corpus callosum and neuronopathy. The children show diffuse hypotonia, delayed motor and mental development. Neurophysiological examinations revealed reduction of the motor nerve conduction velocity, absence of sensory nerve action potentials, abnormal somatosensory and visual evoked potentials. Nerve biopsies showed reduced density of myelinated and unmyelinated fibres in both children. We also found signs of hypomyelination and suggest this is secondary to degeneration of peripheral sensory and motor neurons. Our findings are consistent with the diagnosis of Andermann syndrome. This is the first report of the occurrence of Andermann syndrome out of French Canada.
MESH: Axons-ultrastructure; Biopsy-; Canada-; Child,-Preschool; Chromosome-Abnormalities; Demyelinating-Diseases-diagnosis; Evoked-Potentials,-Somatosensory; Evoked-Potentials,-Visual; Magnetic-Resonance-Imaging; Mental-Retardation-diagnosis; Muscle-Hypotonia-diagnosis; Muscle-Hypotonia-etiology
MESH: *Corpus-Callosum-abnormalities; *Demyelinating-Diseases-complications; *Mental-Retardation-etiology; *Syndrome-
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93317101
UD: 9310
MEDLINE EXPRESS (R) 1991-1995 4 of 14
TI: Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies.
AU: Mathews-PM; Andermann-F; Silver-K; Karpati-G; Arnold-DL
AD: Montreal Neurological Institute and Hospital, PQ, Canada.
SO: Neurology. 1993 Dec; 43(12): 2484-90
ISSN: 0028-3878
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Localized brain proton MR spectra were acquired from patients with different mitochondrial encephalomyopathies (myoclonus epilepsy with ragged-red fibers [MERRF], Kearns-Sayre syndrome [KSS], and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS]). The regional brain metabolic abnormalities in patients with these syndromes showed different features consistent with the distinct phenotypes. In MERRF, only one of four patients showed an increase in the lactate/creatine resonance intensity ratio (an index of impairment of oxidative metabolism) in spectra from central (supraventricular) or occipital brain volumes, and this was small. There were significant decreases in N-acetylaspartate/creatine (a measure of neuronal loss or dysfunction) in central cerebral volumes of demented patients and, more prominently, in occipital volumes. In the one patient in whom it was studied, the cerebellum also showed a decreased N-acetylaspartate/creatine. Spectra from two patients with KSS both showed large (four- to sevenfold) increases in lactate/creatine and large decreases in N-acetylaspartate/creatine in central brain volumes. Yet another pattern of regional metabolic abnormality was present in the MELAS syndrome, where proton spectroscopic imaging demonstrated focal localization of abnormally increased lactate/creatine and decreased N-acetylaspartate/creatine to the regions of the stroke-like lesions on conventional MR images. Serial studies emphasized that the regional metabolic abnormalities in MELAS are highly variable as the stroke-like lesions appear and evolve.
MESH: Aspartic-Acid-analogs-and-derivatives; Aspartic-Acid-metabolism; Brain-pathology; Choline-metabolism; Creatine-metabolism; Kearns-Syndrome-pathology; Lactates-metabolism; Magnetic-Resonance-Imaging; MELAS-Syndrome-pathology; MERRF-Syndrome-pathology; Tissue-Distribution
MESH: *Brain-metabolism; *Kearns-Syndrome-metabolism; *MELAS-Syndrome-metabolism; *MERRF-Syndrome-metabolism; *Nuclear-Magnetic-Resonance
TG: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
RN: 0; 50-21-5; 56-84-8; 57-00-1; 62-49-7; 997-55-7
NM: Lactates; lactic-acid; Aspartic-Acid; Creatine; Choline; N-acetylaspartate
AN: 94077363
UD: 9403
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 5 of 14
TI: Occurrence of Andermann syndrome out of French Canada--agenesis of the corpus callosum with neuronopathy [letter; comment]
CM: Comment on: Neuropediatrics 1993 Apr;24(2):107-10
AU: Battistella-PA
SO: Neuropediatrics. 1993 Aug; 24(4): 239
ISSN: 0174-304X
PY: 1993
LA: ENGLISH
CP: GERMANY
MESH: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-genetics; Child-; Italy-; Motor-Neuron-Disease-diagnosis; Syndrome-
MESH: *Anterior-Horn-Cells-physiology; *Corpus-Callosum-abnormalities; *Mental-Retardation-genetics; *Motor-Neuron-Disease-genetics; *Paraplegia-genetics; *Reflex,-Abnormal-genetics
TG: Case-Report; Human; Male
PT: COMMENT; LETTER
AN: 94050421
UD: 9402
MEDLINE EXPRESS (R) 1991-1995 6 of 14
TI: Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood.
AU: Arnold-DL; Silver-K; Andermann-F
AD: Montreal Neurological Hospital and Institute, McGill University, Quebec, Canada.
SO: Ann-Neurol. 1993 Jun; 33(6): 604-7
ISSN: 0364-5134
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.
MESH: Adenosine-Diphosphate-metabolism; Adenosine-Triphosphate-metabolism; Child-; Cytosol-metabolism; Nuclear-Magnetic-Resonance-methods; Phosphates-metabolism; Phosphocreatine-metabolism
MESH: *Hemiplegia-metabolism; *Hemiplegia-physiopathology; *Mitochondria,-Muscle-metabolism; *Muscles-metabolism
TG: Human
PT: JOURNAL-ARTICLE
RN: 0; 56-65-5; 58-64-0; 67-07-2
NM: Phosphates; Adenosine-Triphosphate; Adenosine-Diphosphate; Phosphocreatine
AN: 93270466
UD: 9308
MEDLINE EXPRESS (R) 1991-1995 7 of 14
TI: Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease.
AU: Matthews-PM; Ford-B; Dandurand-RJ; Eidelman-DH; O'Connor-D; Sherwin-A; Karpati-G; Andermann-F; Arnold-DL
AD: Montreal Neurological Institute and Hospital, PQ, Canada.
SO: Neurology. 1993 May; 43(5): 884-90
ISSN: 0028-3878
PY: 1993
LA: ENGLISH
CP: UNITED-STATES
AB: We followed 16 patients with a variety of mitochondrial diseases over one to four periods of treatment (2 months each) with coenzyme Q10 plus vitamins K3 and C, riboflavin, thiamine, and niacin, using independent measures of oxidative metabolism to assess efficacy. There were large (> threefold) increases in serum coenzyme Q10 concentrations with treatment, but no measure of oxidative metabolism showed significant improvement with treatment for the group, nor did any individual patient show significant, reproducible, objective clinical improvement. The results suggest that coenzyme Q10 plus vitamin therapy does not significantly improve mitochondrial oxidative metabolism in patients with mitochondrial disease in general. Any clinical benefit that may follow from short-term administration appears slight.
MESH: Adenosine-Triphosphate-metabolism; Adolescence-; Adult-; Aged-; DNA,-Mitochondrial-genetics; Exertion-; Gene-Deletion; Lactates-blood; Middle-Age; Mitochondrial-Myopathies-genetics; Mitochondrial-Myopathies-physiopathology; Muscles-metabolism; Nuclear-Magnetic-Resonance; Oxygen-Consumption; Phosphates-metabolism; Phosphocreatine-metabolism; Point-Mutation; Treatment-Outcome; Ubiquinone-therapeutic-use
MESH: *Mitochondrial-Myopathies-drug-therapy; *Ubiquinone-analogs-and-derivatives; *Vitamins-therapeutic-use
TG: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
RN: 0; 0; 0; 0; 1339-63-5; 303-98-0; 56-65-5; 67-07-2
NM: DNA,-Mitochondrial; Lactates; Phosphates; Vitamins; Ubiquinone; coenzyme-Q10; Adenosine-Triphosphate; Phosphocreatine
AN: 93261606
UD: 9308
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 8 of 14
TI: Clinical spectrum of mitochondrial DNA mutation at base pair 8344 [letter; comment]
CM: Comment on: Lancet 1991 Jun 1;337(8753):1311-3
AU: Berkovic-SF; Shoubridge-EA; Andermann-F; Andermann-E; Carpenter-S; Karpati-G
SO: Lancet. 1991 Aug 17; 338(8764): 457
ISSN: 0140-6736
PY: 1991
LA: ENGLISH
CP: ENGLAND
MESH: DNA-Mutational-Analysis
MESH: *DNA,-Mitochondrial-genetics; *Epilepsy,-Myoclonic-genetics; *Mutation-genetics; *RNA,-Transfer,-Lys-genetics
TG: Human
PT: COMMENT; LETTER
RN: 0; 0
NM: DNA,-Mitochondrial; RNA,-Transfer,-Lys
AN: 91325783
UD: 9111
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 9 of 14
TI: Corpus callosum agenesis and psychosis in Andermann syndrome.
AU: Filteau-MJ; Pourcher-E; Bouchard-RH; Baruch-P; Mathieu-J; Bedard-F; Simard-N; Vincent-P
AD: Unite de Neuropsychopharmacologie, Hopital de l'Enfant-Jesus, Quebec, Canada.
SO: Arch-Neurol. 1991 Dec; 48(12): 1275-80
ISSN: 0003-9942
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Recent illustrations by cerebral magnetic resonance imaging of anomalies of the corpus callosum in schizophrenics have kindled renewed interest in this association. We studied 62 patients affected by the Andermann syndrome, a polymalformative familial syndrome combining frequent congenital corpus callosum agenesis, mental retardation, psychotic episodes, peripheral neuropathy, and some dysmorphic features. Twenty of 62 patients presenting with psychosis were compared with 20 nonpsychotic patients matched according to sex and age. The psychotic patients presented an atypical psychosis as defined by the Diagnostic and Statistical Manual of Mental Disorders, Third Edition, beginning in postadolescence. No significant relationship was observed between corpus callosum agenesis and psychosis. However, a significant association between posterior fossa atrophy and psychosis was established in our study. Although there are limitations in using cross-sectional data for this purpose, the findings suggest an association between cerebellar anomalies and schizophrenialike syndrome and rule out an implication of developmental callosal defects in such psychiatric disorders.
MESH: Abnormalities-radiography; Adolescence-; Adult-; Child-; Child,-Preschool; Schizophrenia-diagnosis; Syndrome-
MESH: *Corpus-Callosum-abnormalities; *Mental-Retardation-diagnosis; *Peripheral-Nervous-System-Diseases-diagnosis; *Psychotic-Disorders-diagnosis
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 93263833
UD: 9308
SB: AIM
MEDLINE EXPRESS (R) 1991-1995 10 of 14
TI: Mitochondrial dysfunction in multiple symmetrical lipomatosis.
AU: Berkovic-SF; Andermann-F; Shoubridge-EA; Carpenter-S; Robitaille-Y; Andermann-E; Melmed-C; Karpati-G
AD: Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
SO: Ann-Neurol. 1991 May; 29(5): 566-9
ISSN: 0364-5134
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.
MESH: Adult-; Atrophy-; Cytochrome-c-Oxidase-metabolism; DNA,-Mitochondrial-analysis; Lipomatosis,-Multiple-Symmetrical-enzymology; Lipomatosis,-Multiple-Symmetrical-genetics; Middle-Age; Muscles-enzymology
MESH: *Lipomatosis,-Multiple-Symmetrical-pathology; *Mitochondria-pathology; *Muscles-pathology
TG: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: EC 1.9.3.1; 0
NM: Cytochrome-c-Oxidase; DNA,-Mitochondrial
AN: 91315174
UD: 9110
MEDLINE EXPRESS (R) 1991-1995 11 of 14
TI: Correlative multidisciplinary approach to the study of mitochondrial encephalomyopathies.
AU: Karpati-G; Arnold-D; Matthews-P; Carpenter-S; Andermann-F; Shoubridge-E
AD: Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.
SO: Rev-Neurol-Paris. 1991; 147(6-7): 455-61
ISSN: 0035-3787
PY: 1991
LA: ENGLISH
CP: FRANCE
AB: Mitochondrial encephalomyopathies can be caused by defects in the mitochondrial respiratory complexes. The clinical phenotypes are quite protean but in many instances a characteristic or suggestive clinical presentation permits a tentative bedside diagnosis. The diagnosis can be verified by laboratory investigations. The major laboratory hallmarks of mitochondrial encephalomyopathies include: ragged red fibers on muscle biopsy, a specific defect or deficiency in a mitochondrial respiratory enzyme complex, mtDNA abnormalities, reduced anaerobic threshold by bicycle ergometry, impaired cellular energy state by MRS and characteristic brain imaging abnormalities. Monitoring of some of these parameters along with the clinical phenotype will aid in the evaluation of therapeutic trials.
MESH: Brain-Diseases-genetics; Brain-Diseases-metabolism; Electron-Transport-physiology; Muscular-Diseases-genetics; Muscular-Diseases-metabolism; Pedigree-; Phenotype-
MESH: *Brain-Diseases-pathology; *Mitochondria,-Muscle-pathology; *Muscular-Diseases-pathology
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 92073748
UD: 9203
MEDLINE EXPRESS (R) 1991-1995 12 of 14
TI: In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalomyopathy (MERRF).
AU: Matthews-PM; Berkovic-SF; Shoubridge-EA; Andermann-F; Karpati-G; Carpenter-S; Arnold-DL
AD: Montreal Neurological Institute, McGill University, PQ, Canada.
SO: Ann-Neurol. 1991 Apr; 29(4): 435-8
ISSN: 0364-5134
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: Phosphorus magnetic resonance spectroscopy allows noninvasive measurement of the intracellular phosphate-containing metabolites and intracellular pH in localized volumes of human muscle and brain in vivo. This technique was used to study 8 patients with a mitochondrial cytopathy (myoclonus epilepsy with ragged red fibers). Phosphorus magnetic resonance spectroscopy of resting gastrocnemius muscle demonstrated significantly increased relative intracellular inorganic phosphate concentrations (p less than 0.0005) and decreased phosphocreatine to inorganic phosphate concentration ratios (p less than 0.01) in the patients, although only 3 had myopathic signs or symptoms. We propose, therefore, that phosphorus magnetic resonance spectroscopy of resting skeletal muscle is a useful clinical test in evaluation of progressive myoclonus epilepsy. In contrast to results from muscle, however, the relative phosphate metabolite concentrations and intracellular pH in central volumes of the brains of these patients were normal, despite evidence from our previous positron emission tomography studies suggesting that there is diffuse impairment of cerebral oxidative metabolism.
MESH: Brain-pathology; Epilepsy,-Myoclonic-pathology; Magnetic-Resonance-Imaging; Nuclear-Magnetic-Resonance; Phosphorus-metabolism
MESH: *Brain-metabolism; *Epilepsy,-Myoclonic-metabolism; *Mitochondria,-Muscle-metabolism; *Muscles-metabolism
TG: Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 7723-14-0
NM: Phosphorus
AN: 92027506
UD: 9201
MEDLINE EXPRESS (R) 1991-1995 13 of 14
TI: Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome.
AU: Matthews-PM; Tampieri-D; Berkovic-SF; Andermann-F; Silver-K; Chityat-D; Arnold-DL
AD: Montreal Neurological Institute and Hospital, Montreal, PQ, Canada.
SO: Neurology. 1991 Jul; 41(7): 1043-6
ISSN: 0028-3878
PY: 1991
LA: ENGLISH
CP: UNITED-STATES
AB: The MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) can be difficult to identify. We report MRI abnormalities that we believe are specific to this disorder in three patients with complete or partial MELAS syndrome. The patients all showed an unusual pattern on T2-weighted MRI with multifocal areas of hyperintense signal confined to the cortex of the cerebrum, cerebellum, and adjacent white matter. Some images suggested selective cortical involvement of deeper layers only. Deep white matter was relatively spared, distinguishing this from usual cerebrovascular disease or the edema after status epilepticus. Specificity of these findings is further suggested by a good correlation of these findings with the previously described unique postmortem brain pathology of MELAS.
MESH: Adult-; Brain-pathology; Brain-Diseases-pathology; Child-; Infant-; Syndrome-
MESH: *Acidosis,-Lactic-diagnosis; *Brain-Diseases-diagnosis; *Cerebrovascular-Disorders-diagnosis; *Magnetic-Resonance-Imaging; *Mitochondria,-Muscle; *Muscular-Diseases-diagnosis
TG: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 91296114
UD: 9110
SB: AIM
MEDLINE EXPRESS (R) 1990 14 of 14
TI: [Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases.]
TO: Neuropathie sensitivo-motrice hereditaire avec ou sans agenesie du corps calleux: etude radiologique et clinique de 64 cas.
AU: Mathieu-J; Bedard-F; Prevost-C; Langevin-P
AD: Clinique des maladies neuro-musculaires, Hopital de Chicoutimi, PQ, Canada.
SO: Can-J-Neurol-Sci. 1990 May; 17(2): 103-8
ISSN: 0317-1671
PY: 1990
LA: FRENCH; NON-ENGLISH
CP: CANADA
AB: In 1971, Andermann and Andermann described an autosomal recessive syndrome found within the Charlevoix and the Saguenay populations (Quebec, Canada) characterized by agenesis of the corpus callosum (ACC) associated with motor and sensory neuropathy, mental retardation and dysmorphic features. A study of CT in 64 patients demonstrated a total ACC in 37 cases (57.8%), partial ACC in 6 cases (9.4%) and the presence of the corpus callosum in 21 cases (32.8%). The latter was confirmed by MRI in 3 cases. CT of patients without ACC revealed a high frequency of developmental or degenerative midline anomalies, particularly interhemispheric fissure enlargement and posterior fossa atrophy. The clinical presentation and the natural course of the neuropathy, the intellectual impairment and the behavioural manifestations are identical amongst individuals with or without ACC. Individuals with or without ACC are found within the same family and often within the same sibship. These observations support the hypothesis of a single genetic syndrome in which the constant manifestation is the motor and sensory neuropathy.
MESH: Adolescence-; Adult-; Child-; Child,-Preschool; Corpus-Callosum-pathology; Corpus-Callosum-radiography; English-Abstract; Neuropathies,-Hereditary-Motor-and-Sensory-diagnosis; Pedigree-
MESH: *Corpus-Callosum-abnormalities; *Magnetic-Resonance-Imaging; *Neuropathies,-Hereditary-Motor-and-Sensory-radiography
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 90291330
UD: 9010