The hereditary adult-onset ataxias in south Africa
The hereditary adult-onset ataxias in south Africa
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DOI：
10.1016/s0022-510x(03)00209-0
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发表时间：
2003-12-15
影响因子：
4.4
通讯作者：
Greenberg, J
中科院分区：
文献类型：
--
作者：
Bryer, A;Krause, A;Greenberg, J
关于非洲大陆常染色体显性遗传性脊髓小脑性共济失调(SCA)的频谱和频率的数据很少。我们在南非(SA)进行了一项为期10年的大型前瞻性人口研究。对受影响的患者进行临床评估，并进行SCA1、2、3、6和7扩增的分子分析。在54个共济失调家系中，SCA1占40.7%，SCA2占13%，SCA3占3.7%，SCA6占1.9%，SCA7占22.2%，18.5%为阴性。在南非，SCAI和SCA7扩展的频率是所有国家中报告的这些扩展的最高频率之一。在这项研究中，SCA7突变仅在黑人血统的SA家族中发现。(C)2003年，爱思唯尔出版。
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.