The hereditary adult-onset ataxias in south Africa

被引：67

作者：

Bryer, A ^{[1
]}

Krause, A

Bill, P

Davids, V

Bryant, D

Butler, J

Heckmann, J

Ramesar, R

Greenberg, J

机构：

[1] Groote Schuur Hosp, Div Neurol, Dept Med, ZA-7925 Cape Town, South Africa

[2] Univ Cape Town, ZA-7925 Cape Town, South Africa

[3] Natl Hlth Lab Serv, Sch Pathol, Div Human Genom, Johannesburg, South Africa

[4] Univ Witwatersrand, Johannesburg, South Africa

[5] Univ KwaZulu Natal, ZA-4001 Durban, South Africa

[6] Inkosi Albert Luthuli Hosp, Sch Clin Sci, Div Neurol, Durban, South Africa

[7] Univ Cape Town, Human Genet Res Unit, Div Human Genet, ZA-7925 Cape Town, South Africa

[8] Tygerberg Hosp, Dept Med, Neurol Unit, Cape Town, South Africa

[9] Univ Stellenbosch, Cape Town, South Africa

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2003年 / 216卷 / 01期

基金：

英国医学研究理事会;

关键词：

spinocerebellar ataxia; or inherited ataxias; south Africa; CAG repeats;

D O I：

10.1016/S0022-510X(03)00209-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

There is little data on the spectrum and frequencies of the autosomal dominant spinocerebellar ataxias (SCAs) from the African continent. We undertook a large prospective population-based study over a 10-year period in South Africa (SA). Affected persons were clinically evaluated, and the molecular analysis for the SCA1, 2, 3, 6 and 7 expansions was undertaken. Of the 54 SA families with dominant ataxia, SCA1 accounted for 40.7%, SCA2 for 13%, SCA3 for 3.7%, SCA6 for 1.9%, SCA7 for 22.2% and 18.5% were negative for all these mutations. The frequency of the SCAI and SCA7 expansions in SA represents one of the highest frequencies for these expansions reportedin any country. In this study, the SCA7 mutations have only been found in SA families of Black ethnic origin. (C) 2003 Published by Elsevier B.V.

引用

页码：47 / 54

页数：8

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