Huntington's disease confirmed by genetic testing in five African families.
Identifieur interne : 005015 ( Ncbi/Checkpoint ); précédent : 005014; suivant : 005016Huntington's disease confirmed by genetic testing in five African families.
Auteurs : E. Silber [Afrique du Sud] ; J. Kromberg ; J A Temlett ; A. Krause ; D. SafferSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1998.
Descripteurs français
- Wicri :
- geographic : Afrique du Sud.
English descriptors
- KwdEn :
- African Continental Ancestry Group (genetics), Chromosome Aberrations (genetics), Chromosome Disorders, European Continental Ancestry Group (genetics), Female, Genes, Dominant (genetics), Genetic Testing, Humans, Huntington Disease (diagnosis), Huntington Disease (genetics), Male, Pedigree, Phenotype, South Africa, Trinucleotide Repeats (genetics).
- 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.
DOI: 10.1002/mds.870130420
PubMed: 9686782
Affiliations:
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pubmed:9686782Le document en format XML
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Kromberg</name></author><author><name sortKey="Temlett, J A" sort="Temlett, J A" uniqKey="Temlett J" first="J A" last="Temlett">J A Temlett</name></author><author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A" last="Krause">A. Krause</name></author><author><name sortKey="Saffer, D" sort="Saffer, D" uniqKey="Saffer D" first="D" last="Saffer">D. 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Silber</name><affiliation wicri:level="4"><nlm:affiliation>Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand.</nlm:affiliation><country>Afrique du Sud</country><placeName><settlement type="city">Johannesburg</settlement><region type="region" nuts="2">Gauteng</region></placeName><orgName type="university">Université du Witwatersrand</orgName></affiliation></author><author><name sortKey="Kromberg, J" sort="Kromberg, J" uniqKey="Kromberg J" first="J" last="Kromberg">J. Kromberg</name></author><author><name sortKey="Temlett, J A" sort="Temlett, J A" uniqKey="Temlett J" first="J A" last="Temlett">J A Temlett</name></author><author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A" last="Krause">A. Krause</name></author><author><name sortKey="Saffer, D" sort="Saffer, D" uniqKey="Saffer D" first="D" last="Saffer">D. Saffer</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="1998" type="published">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>African Continental Ancestry Group (genetics)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</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>Male</term><term>Pedigree</term><term>Phenotype</term><term>South Africa</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>South Africa</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></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Afrique du Sud</term></keywords></textClass></profileDesc></teiHeader><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></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><noCountry><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 A" last="Temlett">J A Temlett</name></noCountry><country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Silber, E" sort="Silber, E" uniqKey="Silber E" first="E" last="Silber">E. Silber</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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