Canavan disease

Definition:

Canavan disease (CD) is an autosomal recessive neurodegenerative disorder associated with mutations of the gene encoding aspartoacylase (ASPA). In humans, the CD syndrome is marked by early onset, hydrocephalus, macroencephaly, psychomotor retardation, and spongiform myelin sheath vacuolization with progressive leukodystrophy. The disease is caused by aspartoacylase deficiency resulting in accumulation of N-acetylaspartic acid (NAA) in the brain. The increased levels of NAA in CD lead to swelling or sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are different and more diverse.

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