Literature DB >> 9686782

Huntington's disease confirmed by genetic testing in five African families.

E Silber1, J Kromberg, J A Temlett, A Krause, D Saffer.   

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.

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Mesh:

Year:  1998        PMID: 9686782     DOI: 10.1002/mds.870130420

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  5 in total

Review 1.  Epidemiology of neurodegenerative diseases in sub-Saharan Africa: a systematic review.

Authors:  Alain Lekoubou; Justin B Echouffo-Tcheugui; Andre P Kengne
Journal:  BMC Public Health       Date:  2014-06-26       Impact factor: 3.295

2.  Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Authors:  Amanda Krause; Claire Mitchell; Fahmida Essop; Susan Tager; James Temlett; Giovanni Stevanin; Christopher Ross; Dobrila Rudnicki; Russell Margolis
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2015-06-16       Impact factor: 3.568

3.  Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes.

Authors:  Fiona K Baine; Chris Kay; Maria E Ketelaar; Jennifer A Collins; Alicia Semaka; Crystal N Doty; Amanda Krause; L Jacquie Greenberg; Michael R Hayden
Journal:  Eur J Hum Genet       Date:  2013-03-06       Impact factor: 4.246

4.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Authors:  Simon C Warby; Alexandre Montpetit; Anna R Hayden; Jeffrey B Carroll; Stefanie L Butland; Henk Visscher; Jennifer A Collins; Alicia Semaka; Thomas J Hudson; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2009-02-26       Impact factor: 11.025

Review 5.  Alzheimer's disease and vascular dementia in developing countries: prevalence, management, and risk factors.

Authors:  Raj N Kalaria; Gladys E Maestre; Raul Arizaga; Robert P Friedland; Doug Galasko; Kathleen Hall; José A Luchsinger; Adesola Ogunniyi; Elaine K Perry; Felix Potocnik; Martin Prince; Robert Stewart; Anders Wimo; Zhen-Xin Zhang; Piero Antuono
Journal:  Lancet Neurol       Date:  2008-07-28       Impact factor: 44.182

  5 in total

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