Huntington's disease confirmed by genetic testing in five african families
Identifieur interne : 004F90 ( Main/Curation ); précédent : 004F89; suivant : 004F91Huntington's disease confirmed by genetic testing in five african families
Auteurs : Silber [Afrique du Sud] ; J. Kromberg [Afrique du Sud] ; J. A. Temlett [Afrique du Sud] ; A. Krause [Afrique du Sud] ; D. Saffer [Afrique du Sud]Source :
- Movement Disorders [ 0885-3185 ] ; 1998-07.
Descripteurs français
- Wicri :
- geographic : Afrique du Sud.
- topic : Afrique, épidémiologie.
English descriptors
- KwdEn :
- Africa, African Continental Ancestry Group (genetics), Chromosome Aberrations (genetics), Chromosome Disorders, Epidemiology, European Continental Ancestry Group (genetics), Female, Genes, Dominant (genetics), Genetic Testing, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Huntington's disease, Male, Pedigree, Phenotype, South Africa, Trinucleotide Repeats (genetics), Trinucleotide repeats.
- MESH :
- geographic : South Africa.
- diagnosis : Huntington Disease.
- genetics : African Continental Ancestry Group, Chromosome Aberrations, European Continental Ancestry Group, Genes, Dominant, Huntington Disease, Trinucleotide Repeats.
- Chromosome Disorders, Female, Genetic Testing, Humans, Male, Pedigree, Phenotype.
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
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ISTEX:119F743FD7F272B6121FAF819AA823FAC598A7B7Le document en format XML
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<author><name sortKey="Kromberg, J" sort="Kromberg, J" uniqKey="Kromberg J" first="J." last="Kromberg">J. Kromberg</name>
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<author><name sortKey="Temlett, J A" sort="Temlett, J A" uniqKey="Temlett J" first="J. A." last="Temlett">J. A. Temlett</name>
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<author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A." last="Krause">A. Krause</name>
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<affiliation wicri:level="4"><country>Afrique du Sud</country>
<placeName><settlement type="city">Johannesburg</settlement>
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<orgName type="university">Université du Witwatersrand</orgName>
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<placeName><settlement type="city">Johannesburg</settlement>
<region type="region" nuts="2">Gauteng</region>
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<author><name sortKey="Temlett, J A" sort="Temlett, J A" uniqKey="Temlett J" first="J. A." last="Temlett">J. A. Temlett</name>
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<placeName><settlement type="city">Johannesburg</settlement>
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<author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A." last="Krause">A. Krause</name>
<affiliation wicri:level="4"><country>Afrique du Sud</country>
<placeName><settlement type="city">Johannesburg</settlement>
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<author><name sortKey="Saffer, D" sort="Saffer, D" uniqKey="Saffer D" first="D." last="Saffer">D. Saffer</name>
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<placeName><settlement type="city">Johannesburg</settlement>
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<orgName type="university">Université du Witwatersrand</orgName>
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<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>
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<pubPlace>Hoboken</pubPlace>
<date type="published" when="1998-07">1998-07</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Africa</term>
<term>African Continental Ancestry Group (genetics)</term>
<term>Chromosome Aberrations (genetics)</term>
<term>Chromosome Disorders</term>
<term>Epidemiology</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genes, Dominant (genetics)</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Huntington Disease (diagnosis)</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington's disease</term>
<term>Male</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>South Africa</term>
<term>Trinucleotide Repeats (genetics)</term>
<term>Trinucleotide repeats</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>South Africa</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Afrique du Sud</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Afrique</term>
<term>épidémiologie</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Continental Ancestry Group</term>
<term>Chromosome Aberrations</term>
<term>European Continental Ancestry Group</term>
<term>Genes, Dominant</term>
<term>Huntington Disease</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Chromosome Disorders</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Phenotype</term>
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<front><div type="abstract" xml: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.</div>
</front>
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