title: [Long term clinical course of Canavan disease--a rare Japanese case].
abstract: Canavan disease (CD), which is a rare disease in Japan, is an autosomal-recessive neurodegenerative disorder caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain. CD affected children usually die by the age of 10 years. Here we report a long term clinical course of a 21-year-old Japanese woman who was diagnosed as CD at the age 4. This patient is the only reported case of CD in Japan that has been biochemically confirmed. Although this patient is currently bed-ridden with spastic quadriplegia and severe mental retardation, her general condition is quite stable. This patient showed a milder clinical course compared to the majority of CD patients. Because this is the only reported case of CD in Japan, we hypothesize that there might be an ethnic phenotypic polymorphism in CD.
authors.affiliation: Division of Neurology, National Center for Child Health and Development, Tokyo. mizu0609@s07.itscom.net
authors.forename: Koichi
authors.initials: K
authors.lastname: Mizuguchi
authors.forename: Hideki
authors.initials: H
authors.lastname: Hoshino
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hamaguchi
authors.forename: Masaya
authors.initials: M
authors.lastname: Kubota
mesh_terms: D000328:Adult; D000581:Amidohydrolases / Q000235:genetics; D044466:Asian People; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000652:urine; D015415:Biomarkers / Q000652:urine; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D009154:Mutation; D013997:Time Factors; D055815:Young Adult
chemical_list: D015415:Biomarkers; D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase