Document Detail

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
MedLine Citation:
PMID:  9758625     Owner:  NLM     Status:  MEDLINE    
To test the hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxias (SCAs)-SCA types 1, 2, 3 (Machado-Joseph disease), 6, and dentatorubral-pallidoluysian atrophy (DRPLA)-we investigated the relative prevalences of these diseases in 202 Japanese and 177 Caucasian families and distributions of the number of CAG repeats of ANs at these disease loci in normal individuals in each population. The relative prevalences of SCA1 and SCA2 were significantly higher in Caucasian pedigrees (15% and 14%, respectively) than in Japanese pedigrees (3% and 5%, respectively), corresponding to the observation that the frequencies of large ANs of SCA1 (alleles >30 repeats) and of SCA2 (alleles >22 repeats) were significantly higher in Caucasians than in Japanese. The relative prevalences of MJD/SCA3, SCA6, and DRPLA were significantly higher in Japanese pedigrees (43%, 11%, and 20%, respectively) than in Caucasian pedigrees (30%, 5%, and 0%, respectively), corresponding to the observation that the frequencies of large ANs of MJD/SCA3 (>27 repeats), SCA6 (>13 repeats), and DRPLA (>17 repeats) were significantly higher in Japanese than in Caucasians. The close correlations of the relative prevalences of the dominant SCAs with the distributions of large ANs strongly support the assumption that large ANs contribute to generation of expanded alleles (AEs) and the relative prevalences of the dominant SCAs.
H Takano; G Cancel; T Ikeuchi; D Lorenzetti; R Mawad; G Stevanin; O Didierjean; A Dürr; M Oyake; T Shimohata; R Sasaki; R Koide; S Igarashi; S Hayashi; Y Takiyama; M Nishizawa; H Tanaka; H Zoghbi; A Brice; S Tsuji
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  63     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1998-12-04     Completed Date:  1998-12-04     Revised Date:  2008-11-20    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1060-6     Citation Subset:  IM    
Department of Neurology, Brain Research Institute, Niigata University, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics
Calcium Channels / genetics
European Continental Ancestry Group / genetics
Gene Frequency*
Genes, Dominant*
Machado-Joseph Disease / genetics
Nerve Tissue Proteins / genetics
Nuclear Proteins / genetics
Proteins / genetics
Spinocerebellar Degenerations / epidemiology,  genetics*
Trinucleotide Repeat Expansion*
Grant Support
Reg. No./Substance:
0/CACNA1A protein, human; 0/Calcium Channels; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Proteins; 0/SCA2 protein; 0/ataxin-1; 0/atrophin-1

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