Document Detail

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
MedLine Citation:
PMID:  18285829     Owner:  NLM     Status:  MEDLINE    
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 Europe, South America and the Far East, including an established de novo SCA6 expansion. A core CACNA1A disease haplotype was found in affected individuals across the globe. This was also present in the unaffected father of the de novo case, suggesting that the shared chromosome predisposes to the CAG repeat expansion at the SCA6 locus. The SCA6 expansion lies within a CpG island, which could act as a cis-acting element predisposing to repeat expansion as for other CAG/CTG repeat diseases. Polymorphic variation in this region may explain the high-risk haplotype found in SCA6 families.
Kate Craig; Yoshihisa Takiyama; Bing-Wen Soong; Laura B Jardim; Maria Luiza Saraiva-Pereira; Kieren Lythgow; Hiroyuki Morino; Hirofumi Maruyama; Hideshi Kawakami; Patrick F Chinnery
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2008-02-20
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  16     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-19     Completed Date:  2008-09-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  841-7     Citation Subset:  IM    
Medical School,University of Newcastle upon Tyne, Newcastle upon Tyne, UK.
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MeSH Terms
Case-Control Studies
Chromosomes, Human / genetics*
Chromosomes, Human, Pair 19
Computational Biology
Founder Effect*
Microsatellite Repeats
Spinocerebellar Ataxias / genetics*

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