Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians
Identifieur interne : 002D60 ( Istex/Checkpoint ); précédent : 002D59; suivant : 002D61Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians
Auteurs : S. H. Subramony [États-Unis] ; Dena Hernandez [États-Unis] ; Amanda Adam [États-Unis] ; Stephanie Smith-Jefferson [États-Unis] ; Jennifer Hussey [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Timothy Lynch [États-Unis, Irlande (pays)] ; Olga Mcdaniel [États-Unis] ; John Hardy [États-Unis, Royaume-Uni] ; Matt Farrer [États-Unis] ; Andrew Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-09.
English descriptors
- KwdEn :
Abstract
We describe several families of African origin with SCA3/Machado‐Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with parkinsonian signs to a syndrome clinically almost indistinguishable from idiopathic, L‐dopa–responsive Parkinson's disease. In contrast, these parkinsonian phenotypes are rare in those of European descent. Haplotype analysis shows that these African families do not share a common founder, thus a cis‐acting element in the promoter is unlikely to be responsible these unusual presentations. We suggest that trans‐acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10241
Affiliations:
- Irlande (pays), Royaume-Uni, États-Unis
- Floride, Maryland, État de New York, État du Mississippi
- New York
- Université Columbia
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<front><div type="abstract" xml:lang="en">We describe several families of African origin with SCA3/Machado‐Joseph disease gene expansions. In these cases, the phenotype ranges from ataxia with parkinsonian signs to a syndrome clinically almost indistinguishable from idiopathic, L‐dopa–responsive Parkinson's disease. In contrast, these parkinsonian phenotypes are rare in those of European descent. Haplotype analysis shows that these African families do not share a common founder, thus a cis‐acting element in the promoter is unlikely to be responsible these unusual presentations. We suggest that trans‐acting factors are responsible for the variable phenotype and discuss the implications of diseases showing racially different expressivities. © 2002 Movement Disorder Society</div>
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