Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population
Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population
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DOI：
10.1002/mds.21470
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发表时间：
2007-05-15
影响因子：
8.6
通讯作者：
Rasmussen, Astrid
中科院分区：
文献类型：
--
作者：
Alonso, Elisa;Martinez-Ruano, Leticia;Rasmussen, Astrid
显性共济失调表现出广泛的地理变异。我们分析了来自墨西哥的108个显性家族和123名散发性共济失调患者的突变导致SCA 1 -3，6-8，10，12，17和DRPLA。仅18.5%的优势家系未确诊; SCA 2占一半（45.4%），其次是SCA 10（13.9%），SCA 3（12%），SCA 7（7.4%）和SCA 17（2.8%）。无SCA 1、6、8、12或DRPLA。在散发病例中，6例SCA 2（4.9%），2例SCA 17（1.6%）。在SCA 2患者中，我们确定了6个具有罕见（CAG）33等位基因的个体，其中2人表现出早发性共济失调。墨西哥人显性共济失调突变的分布与其他人群不同。(C)2007年，《社会运动》创刊。
Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1-3, 6-8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA10 (13.9%), SCA3 (12%), SCA7 (7.4%), and SCA17 (2.8%). None had SCA1, 6, 8, 12 or DRPLA. Among sporadic cases, 6 had SCA2 (4.9%), and 2 had SCA17 (1.6%). In the SCA2 patients we identified 6 individuals with the rare (CAG)33 allele, 2 of whom showed early onset ataxia. The distribution of dominant ataxia mutations in Mexicans is distinct from other populations. (C) 2007 Movement Disorder Society.