Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
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DOI：
10.1212/01.wnl.0000238507.85436.20
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发表时间：
2006-10-10
期刊：
影响因子：
9.9
通讯作者：
Itoyama, Y.
中科院分区：
文献类型：
--
作者：
Onodera, Y.;Aoki, M.;Itoyama, Y.
染色体16q22.1连锁常染色体显性小脑性共济失调（16q-ADCA）与puratrophin-1基因的替换密切相关。该位点与脊髓小脑性共济失调4型（SCA4）重叠，后者表现为共济失调伴突出的感觉轴索神经病。我们发现16q-ADCA是日本东北地区常见的ADCA亚型。日本16q-ADCA的临床特征为迟发性单纯小脑性共济失调。
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is strongly associated with a substitution in the puratrophin-1 gene. This locus overlaps with spinocerebellar ataxia type 4 (SCA4) which shows ataxia with prominent sensory axonal neuropathy. We found that 16q-ADCA is a common ADCA subtype in the Tohoku District of Japan. The clinical feature of Japanese 16q-ADCA is characterized as late-onset pure cerebellar ataxia.