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A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2012

Eke Gungor H, Iscan A, Cece H, Calik M

Abstract excerpt

Canavan disease (CD) is an autosomal recessive inherited disorder characterized by spongy degeneration of the brain. The deficiency of aspartoacylase (ASPA), resulting in the accumulation of N-acetyl aspartic acid (NAA) in the brain, plays an important role in the pathogenesis of the disease. The cardinal features of this neurodegenerative disease are macrocephaly, mental retardation, and hypotonia. Magnetic...

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PMID: 22611636

Genes

ASPA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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