Huntington's disease confirmed by genetic testing in five african families
Identifieur interne : 004F90 ( Main/Exploration ); 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
Affiliations:
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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></TEI><affiliations><list><country><li>Afrique du Sud</li></country><region><li>Gauteng</li></region><settlement><li>Johannesburg</li></settlement><orgName><li>Université du Witwatersrand</li></orgName></list><tree><country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Silber" sort="Silber" uniqKey="Silber" last="Silber">Silber</name></region><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A." last="Krause">A. Krause</name><name sortKey="Kromberg, J" sort="Kromberg, J" uniqKey="Kromberg J" first="J." last="Kromberg">J. Kromberg</name><name sortKey="Saffer, D" sort="Saffer, D" uniqKey="Saffer D" first="D." last="Saffer">D. Saffer</name><name sortKey="Temlett, J A" sort="Temlett, J A" uniqKey="Temlett J" first="J. 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