Ethnic differences in the expression of neurodegenerative disease: Machado‐Joseph disease in Africans and Caucasians
Identifieur interne : 004469 ( Main/Exploration ); précédent : 004468; suivant : 004470Ethnic 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- African, African Americans (statistics & numerical data), Age of Onset, Caucasoid, Comparative study, Epidemiology, Ethnic Groups (statistics & numerical data), Ethnic group, European Continental Ancestry Group (statistics & numerical data), Gene Expression (genetics), Gene expression, Genetic Markers, Human, Humans, Machado-Joseph Disease (epidemiology), Machado-Joseph Disease (genetics), Machado‐Joseph disease, Parkinson's disease, Phenotype, SCA3, Spinocerebellar heredodegeneration, Trinucleotide Repeats (genetics), ataxia, epidemiology, 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. © 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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Le document en format XML
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H." last="Subramony">S. H. Subramony</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi</wicri:regionArea><placeName><region type="state">État du Mississippi</region></placeName></affiliation></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Adam, Amanda" sort="Adam, Amanda" uniqKey="Adam A" first="Amanda" last="Adam">Amanda Adam</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NINDS/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Smith Efferson, Stephanie" sort="Smith Efferson, Stephanie" uniqKey="Smith Efferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name><affiliation wicri:level="2"><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><placeName><region type="state">État du Mississippi</region></placeName></affiliation></author><author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NINDS/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><affiliation wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Columbia University, New York</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Neurology, Mater Misericordiae Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of Mississippi Medical Center, Surgery Department, Jackson, Mississippi</wicri:regionArea><placeName><region type="state">État du Mississippi</region></placeName></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="1"><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><wicri:noRegion>Reta Lila Weston Institute of Neurological Studies Royal Free And University College London Medical School London</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, NIA/NIH, Rockville Pike, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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>African</term><term>African Americans (statistics & numerical data)</term><term>Age of Onset</term><term>Caucasoid</term><term>Comparative study</term><term>Epidemiology</term><term>Ethnic Groups (statistics & numerical data)</term><term>Ethnic group</term><term>European Continental Ancestry Group (statistics & numerical data)</term><term>Gene Expression (genetics)</term><term>Gene expression</term><term>Genetic Markers</term><term>Human</term><term>Humans</term><term>Machado-Joseph Disease (epidemiology)</term><term>Machado-Joseph Disease (genetics)</term><term>Machado‐Joseph disease</term><term>Parkinson's disease</term><term>Phenotype</term><term>SCA3</term><term>Spinocerebellar heredodegeneration</term><term>Trinucleotide Repeats (genetics)</term><term>ataxia</term><term>epidemiology</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Machado-Joseph Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Expression</term><term>Machado-Joseph Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>African Americans</term><term>Ethnic Groups</term><term>European Continental Ancestry Group</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Humans</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Africain</term><term>Caucasoïde</term><term>Epidémiologie</term><term>Ethnie</term><term>Etude comparative</term><term>Expression génique</term><term>Homme</term><term>Hérédodégénérescence spinocérébelleuse</term><term>Machado-Joseph maladie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><affiliations><list><country><li>Irlande (pays)</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Floride</li><li>Maryland</li><li>État de New York</li><li>État du Mississippi</li></region><settlement><li>New York</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><country name="États-Unis"><region name="État du Mississippi"><name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S. H." last="Subramony">S. H. Subramony</name></region><name sortKey="Adam, Amanda" sort="Adam, Amanda" uniqKey="Adam A" first="Amanda" last="Adam">Amanda Adam</name><name sortKey="Adam, Amanda" sort="Adam, Amanda" uniqKey="Adam A" first="Amanda" last="Adam">Amanda Adam</name><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><name sortKey="Smith Efferson, Stephanie" sort="Smith Efferson, Stephanie" uniqKey="Smith Efferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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