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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sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></author><author><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12360561</idno><idno type="pmid">12360561</idno><idno type="doi">10.1002/mds.10241</idno><idno type="wicri:Area/PubMed/Corpus">003940</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and 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><nlm:affiliation>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name></author><author><name sortKey="Adam, Amanda" sort="Adam, Amanda" uniqKey="Adam A" first="Amanda" last="Adam">Amanda Adam</name></author><author><name sortKey="Smith Jefferson, Stephanie" sort="Smith Jefferson, Stephanie" uniqKey="Smith Jefferson S" first="Stephanie" last="Smith-Jefferson">Stephanie Smith-Jefferson</name></author><author><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name></author><author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name></author><author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name></author><author><name sortKey="Mcdaniel, Olga" sort="Mcdaniel, Olga" uniqKey="Mcdaniel O" first="Olga" last="Mcdaniel">Olga Mcdaniel</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>African Americans (statistics & numerical data)</term><term>Age of Onset</term><term>Ethnic Groups (statistics & numerical data)</term><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></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></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12360561</PMID><DateCreated><Year>2002</Year><Month>10</Month><Day>02</Day></DateCreated><DateCompleted><Year>2003</Year><Month>01</Month><Day>08</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>5</Issue><PubDate><Year>2002</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians.</ArticleTitle><Pagination><MedlinePgn>1068-71</MedlinePgn></Pagination><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><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Subramony</LastName><ForeName>S H</ForeName><Initials>SH</Initials><AffiliationInfo><Affiliation>University of Mississippi Medical Center, Neurology Department, Jackson, Mississippi, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hernandez</LastName><ForeName>Dena</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Adam</LastName><ForeName>Amanda</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Smith-Jefferson</LastName><ForeName>Stephanie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Hussey</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Gwinn-Hardy</LastName><ForeName>Katrina</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>Timothy</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>McDaniel</LastName><ForeName>Olga</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Farrer</LastName><ForeName>Matt</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001741">African Americans</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000706">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005006">Ethnic Groups</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000706">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044465">European Continental Ancestry Group</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000706">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015870">Gene Expression</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017827">Machado-Joseph Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>10</Month><Day>3</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>1</Month><Day>9</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>10</Month><Day>3</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12360561</ArticleId><ArticleId IdType="doi">10.1002/mds.10241</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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