title: A Japanese family with early-onset ataxia with motor and sensory neuropathy.
abstract: We report the case of a Japanese family with hereditary ataxia with peripheral neuropathy. Three affected siblings from this family exhibited very similar clinical features: teenage-onset, slowly progressive ataxia, followed by distal weakness, which developed after the age of 30 years. Magnetic resonance imaging studies showed marked atrophy in the cerebellar hemisphere and vermis, and a sural nerve biopsy revealed a marked reduction in the number of both myelinated and unmyelinated fibers. All patients exhibited hyperglutamatemia, but serum levels of albumin and lipid were normal. The clinicopathological and biochemical features of these cases suggest that they form a distinct entity of autosomal recessive hereditary ataxia with peripheral neuropathy.
authors.affiliation: Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, Tokyo, Japan. skoba-tky@umin.ac.jp
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takuma
authors.forename: Shigeo
authors.initials: S
authors.lastname: Murayama
authors.forename: Masaki
authors.initials: M
authors.lastname: Sakurai
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000328:Adult; D017668:Age of Onset; D002531:Cerebellum / Q000473:pathology* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D018698:Glutamic Acid / Q000097:blood; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology* / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D015854:Up-Regulation / Q000235:genetics
chemical_list: D018698:Glutamic Acid