A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
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DOI：
10.1093/brain/awg130
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发表时间：
2003-06-01
期刊：
影响因子：
14.5
通讯作者：
Soong, BW
中科院分区：
文献类型：
--
作者：
Chung, MY;Lu, YC;Soong, BW
常染色体显性小脑性共济失调 (ADCA) 是一组临床、病理和遗传上异质性的疾病。已鉴定出 10 个与脊髓小脑共济失调类型 SCA1、SCA2、SCA3、SCA6、SCA7、SCA8、SCA10、SCA12 和 SCA17 以及齿状红核苍白球卢伊西亚萎缩 (DRPLA) 相关的基因。该突变是由这些基因的 CAG、CTG 或 ATTCT 重复序列的扩展引起的。另外六个基因座：SCA4、SCA5、SCA11、SCA13、SCA14 和 SCA16 也已被定位。这些疾病的常染色体显性遗传形式的异质性日益增加，表明至少 20% ADCA 的遗传病因尚未阐明。我们确定并临床表征了一个四代中国家系，分离出小脑性共济失调的常染色体显性表型。进行了直接突变分析、所有已知 SCA 位点的连锁分析以及全基因组连锁研究。直接突变分析排除了 SCA1、2、3、6、7、8、10、12、17 和
The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of disorders. Ten responsible genes have been identified for spinocerebellar ataxia types SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12 and SCA17, and dentatorubral pallidoluysian atrophy (DRPLA). The mutation is caused by an expansion of a CAG, CTG or ATTCT repeat sequence of these genes. Six additional loci, SCA4, SCA5, SCA11, SCA13, SCA14 and SCA16 have also been mapped. The growing heterogeneity of the autosomal dominant forms of these diseases shows that the genetic aetiologies of at least 20% of ADCA have yet to be elucidated. We ascertained and clinically characterized a four-generation Chinese pedigree segregating an autosomal dominant phenotype for cerebellar ataxia. Direct mutation analysis, linkage analysis for all known SCA loci and a genome-wide linkage study were performed. Direct mutation analysis excluded SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and