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Article

Atypical MRI findings in Canavan disease: a patient with a mild course.

Neuropediatrics - 1 Oct 2005

Yalcinkaya C, Benbir G, Salomons G S, Karaarslan E, Rolland M O, Jakobs C, van der Knaap M S

Abstract excerpt

Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain shows an increase in the concentration of N-acetylaspartic...

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Source

Identifiers

PMID: 16217711
DOI: 10.1055/s-2005-872878

Genes

ASPA

Variants

Provenance

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.

Related research

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Atypical MRI findings in Canavan disease: a patient with a mild course.PMID 16217711Read ↗

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.Semantic proximity Read ↗

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Novel mutation in an Egyptian patient with infantile Canavan disease.Semantic proximity Read ↗

Two patients with Canavan disease and structural modeling of a novel mutation.Semantic proximity Read ↗

A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

Canavan disease: A white matter disorderSemantic proximity Read ↗

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.Semantic proximity Read ↗

Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.Semantic proximity Read ↗

Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.Semantic proximity Read ↗

Spongy degeneration of the brain, canavan disease: biochemical and molecular findingsSemantic proximity Read ↗

Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase geneSemantic proximity Read ↗

Canavan disease: diagnosis and molecular analysis.Semantic proximity Read ↗

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