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

Journal article

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 examined 11 patients in four French Canadian ChAc pedigrees for mutations in VPS13A. Affected members of three families were homozygous for a 37-kb deletion of the four terminal exons of VPS13A (EX70_...

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Authors: Dobson-Stone, C; Velayos-Baeza, A; Jansen, A; Andermann, F; Dubeau, F

• Publication status: Published
• Journal: Neurogenetics
• Volume: 6
• Issue: 3
• Pages: 151-158
• Publication date: 2005-09-01
• DOI: 10.1007/s10048-005-0220-9
• EISSN: 1364-6753
• ISSN: 1364-6745
• Language: English
• Keywords: Pedigree; Humans; Chorea; Female; Male; Polymorphism, Single Nucleotide; France; DNA; Base Sequence; Canada; Age of Onset; Vesicular Transport Proteins; Founder Effect; Introns