Movement Disorders (revue)

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Huntington's disease confirmed by genetic testing in five african families

Identifieur interne : 003381 ( Istex/Corpus ); précédent : 003380; suivant : 003382

Huntington's disease confirmed by genetic testing in five african families

Auteurs : Silber ; J. Kromberg ; J. A. Temlett ; A. Krause ; D. Saffer

Source :

RBID : ISTEX:119F743FD7F272B6121FAF819AA823FAC598A7B7

English descriptors

Abstract

Huntington's disease is an autosomal‐dominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.

Url:
DOI: 10.1002/mds.870130420

Links to Exploration step

ISTEX:119F743FD7F272B6121FAF819AA823FAC598A7B7

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<namePart type="family">Temlett</namePart>
<namePart type="termsOfAddress">Mbbch, Da(Sa), Fcp(Sa), Mmed(Neuro), PhD</namePart>
<affiliation>Johannesburg Hospital and University of the Witwatersrand, South African Institute for Medical Research and University of the Witwatersrand</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">A.</namePart>
<namePart type="family">Krause</namePart>
<namePart type="termsOfAddress">MBBCh, PhD</namePart>
<affiliation>Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">D.</namePart>
<namePart type="family">Saffer</namePart>
<namePart type="termsOfAddress">MBBCh, FRCP</namePart>
<affiliation>Departments of Neurology, Baragwanath University of the Witwatersrand, South African Institute for Medical Research and University of the Witwatersrand</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<typeOfResource>text</typeOfResource>
<genre authority="originalCategForm">article</genre>
<originInfo>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place>
<placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">1998-07</dateIssued>
<dateCaptured encoding="w3cdtf">1997-01-20</dateCaptured>
<dateValid encoding="w3cdtf">1998-02-12</dateValid>
<copyrightDate encoding="w3cdtf">1998</copyrightDate>
</originInfo>
<language>
<languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
</language>
<physicalDescription>
<internetMediaType>text/html</internetMediaType>
<extent unit="figures">2</extent>
<extent unit="references">27</extent>
</physicalDescription>
<abstract lang="en">Huntington's disease is an autosomal‐dominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.</abstract>
<subject lang="en">
<genre>Keywords</genre>
<topic>Huntington's disease</topic>
<topic>Epidemiology</topic>
<topic>Africa</topic>
<topic>Trinucleotide repeats</topic>
</subject>
<relatedItem type="host">
<titleInfo>
<title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated">
<title>Mov. Disord.</title>
</titleInfo>
<subject>
<genre>article category</genre>
<topic>Article</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part>
<date>1998</date>
<detail type="volume">
<caption>vol.</caption>
<number>13</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>4</number>
</detail>
<extent unit="pages">
<start>726</start>
<end>730</end>
<total>5</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">119F743FD7F272B6121FAF819AA823FAC598A7B7</identifier>
<identifier type="DOI">10.1002/mds.870130420</identifier>
<identifier type="ArticleID">MDS870130420</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 1998 Movement Disorder Society</accessCondition>
<recordInfo>
<recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin>
<recordContentSource>WILEY</recordContentSource>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

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