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Comparative Study
. 2002 Sep;17(5):1068-71.
doi: 10.1002/mds.10241.

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

S H Subramony  1 , Dena Hernandez, Amanda Adam, Stephanie Smith-Jefferson, Jennifer Hussey, Katrina Gwinn-Hardy, Timothy Lynch, Olga McDaniel, John Hardy, Matt Farrer, Andrew Singleton
Affiliations
Comparative Study

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

S H Subramony et al. Mov Disord. 2002 Sep.

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.

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