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Article

Canavan disease: a novel mutation.

Pediatric neurology - 1 Oct 2011

Schober Harald, Luetschg Juerg, Hoeliner Isabella, Kalb Stefanie, Simma Burkhard

Abstract excerpt

Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A...

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PMID: 21907889
DOI: 10.1016/j.pediatrneurol.2011.06.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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