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Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

✍ Scribed by S.H. Subramony; Dena Hernandez; Amanda Adam; Stephanie Smith-Jefferson; Jennifer Hussey; Katrina Gwinn-Hardy; Timothy Lynch; Olga McDaniel; John Hardy; Matt Farrer; Andrew Singleton

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 65 KB
Volume: 17
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.10241

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✦ Synopsis

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

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