Article
A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Fetal and pediatric pathology - 1 Aug 2012
Durmaz Asude Alpman, Akin Haluk, Onay Huseyin, Vahabi Ali, Ozkinay Ferda
Abstract excerpt
Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease. In the presented family sequencing analysis for the aspartoacylase gene was performed...
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