Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Identifieur interne : 003940 ( PubMed/Corpus ); précédent : 003939; suivant : 003941Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.
Auteurs : S H Subramony ; Dena Hernandez ; Amanda Adam ; Stephanie Smith-Jefferson ; Jennifer Hussey ; Katrina Gwinn-Hardy ; Timothy Lynch ; Olga Mcdaniel ; John Hardy ; Matt Farrer ; Andrew SingletonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- African Americans (statistics & numerical data), Age of Onset, Ethnic Groups (statistics & numerical data), European Continental Ancestry Group (statistics & numerical data), Gene Expression (genetics), Genetic Markers, Humans, Machado-Joseph Disease (epidemiology), Machado-Joseph Disease (genetics), Phenotype, Trinucleotide Repeats (genetics).
- MESH :
- chemical : Genetic Markers.
- epidemiology : Machado-Joseph Disease.
- genetics : Gene Expression, Machado-Joseph Disease, Trinucleotide Repeats.
- statistics & numerical data : African Americans, Ethnic Groups, European Continental Ancestry Group.
- Age of Onset, Humans, Phenotype.
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.
DOI: 10.1002/mds.10241
PubMed: 12360561
Links to Exploration step
pubmed:12360561Le document en format XML
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<author><name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S H" last="Subramony">S H Subramony</name>
<affiliation><nlm:affiliation>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA.</nlm:affiliation>
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<author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
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<author><name sortKey="Adam, Amanda" sort="Adam, Amanda" uniqKey="Adam A" first="Amanda" last="Adam">Amanda Adam</name>
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<author><name sortKey="Smith Jefferson, Stephanie" sort="Smith Jefferson, Stephanie" uniqKey="Smith Jefferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name>
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<author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name>
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<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
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<author><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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<author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
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<author><name sortKey="Smith Jefferson, Stephanie" sort="Smith Jefferson, Stephanie" uniqKey="Smith Jefferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name>
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<author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name>
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<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<term>European Continental Ancestry Group (statistics & numerical data)</term>
<term>Gene Expression (genetics)</term>
<term>Genetic Markers</term>
<term>Humans</term>
<term>Machado-Joseph Disease (epidemiology)</term>
<term>Machado-Joseph Disease (genetics)</term>
<term>Phenotype</term>
<term>Trinucleotide Repeats (genetics)</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term>
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<term>Trinucleotide Repeats</term>
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<term>European Continental Ancestry Group</term>
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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.</div>
</front>
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<ArticleTitle>Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation>
</Abstract>
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