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Article

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Annals of neurology - 1 Aug 2010

Régal Luc, Ebberink Merel S, Goemans Nathalie, Wanders Ronald J A, De Meirleir Linda, Jaeken Jacques, Schrooten Maarten, Van Coster Rudy, Waterham Hans R

Abstract excerpt

Peroxisomal biogenesis disorders typically cause severe multisystem disease and early death. We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. Peroxisomal studies revealed a peroxisomal biogenesis disorder. Two mutations in PEX10 were found in the child, c.992G>A (novel) and...

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Source

Identifiers

PMID: 20695019
DOI: 10.1002/ana.22035

Genes

PEX10

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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Mutations in PEX10 are a cause of autosomal recessive ataxia.PMID 20695019Read ↗

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Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.Semantic proximity Read ↗

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