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Article

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.

Neurogenetics - 1 Sept 2005

Dobson-Stone Carol, Velayos-Baeza Antonio, Jansen An, Andermann Frederick, Dubeau François, Robert Francine, Summers Anne, Lang Anthony E, Chouinard Sylvain, Danek Adrian, Andermann Eva, Monaco Anthony P

Abstract excerpt

Mutations in VPS13A cause chorea-acanthocytosis (ChAc), an autosomal recessive neurodegenerative disorder. VPS13A is located in a tail-to-tail arrangement with GNA14 on chromosome 9q21. ChAc shows substantial allelic heterogeneity, with no single VPS13A mutation causing the majority of cases. We...

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Source

Identifiers

PMID: 15918062
DOI: 10.1007/s10048-005-0220-9

Genes

GNA14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15918062-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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