Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians
Identifieur interne : 003577 ( Istex/Curation ); précédent : 003576; suivant : 003578Ethnic 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.
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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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DOI: 10.1002/mds.10241
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Caucasians</title><author><name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S. H." last="Subramony">S. H. Subramony</name><affiliation wicri:level="1"><mods:affiliation>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi</wicri:regionArea></affiliation></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><affiliation wicri:level="1"><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland, USA</mods:affiliation><country 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Stephanie" sort="Smith Efferson, Stephanie" uniqKey="Smith Efferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name><affiliation wicri:level="1"><mods:affiliation>Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, Mississippi</wicri:regionArea></affiliation></author><author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name><affiliation wicri:level="1"><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, NINDS/NIH, Rockville Pike, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NINDS/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Columbia University, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Mater Misericordiae Hospital, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Mater Misericordiae Hospital, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name><affiliation wicri:level="1"><mods:affiliation>University of Mississippi Medical Center, Surgery Department, Jackson, Mississippi, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Mississippi Medical Center, Surgery Department, Jackson, Mississippi</wicri:regionArea></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Reta Lila Weston Institute of Neurological Studies Royal Free And University College London Medical School London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Reta Lila Weston Institute of Neurological Studies Royal Free And University College London Medical School London</wicri:regionArea></affiliation></author><author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><affiliation wicri:level="1"><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="1"><mods:affiliation>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-09">2002-09</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="1068">1068</biblScope><biblScope unit="page" to="1071">1071</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">12FC6F6830486BA765E2AA9F0516AC77719B9A8B</idno><idno type="DOI">10.1002/mds.10241</idno><idno type="ArticleID">MDS10241</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Machado‐Joseph disease</term><term>Parkinson's disease</term><term>SCA3</term><term>ataxia</term><term>epidemiology</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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