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Article

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

European journal of human genetics : EJHG - 1 Jul 2008

Craig Kate, Takiyama Yoshihisa, Soong Bing-Wen, Jardim Laura B, Saraiva-Pereira Maria Luiza, Lythgow Kieren, Morino Hiroyuki, Maruyama Hirofumi, Kawakami Hideshi, Chinnery Patrick F

Abstract excerpt

Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. Affected individuals from the same population share a common haplotype, raising the possibility that most SCA6 cases have descended from a small number of common founders across the globe. To test this hypothesis, we carried out haplotype analysis on SCA6 families from...

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PMID: 18285829
DOI: 10.1038/ejhg.2008.20

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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