[Long term clinical course of Canavan disease--a rare Japanese case].

Abstract excerpt

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...

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