Spinocerebellar ataxia type 31 exists in Northeast China
Spinocerebellar ataxia type 31 exists in Northeast China
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DOI：
10.1016/j.jns.2012.02.005
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发表时间：
2012-05-15
影响因子：
4.4
通讯作者：
Yuan, Liying
中科院分区：
文献类型：
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作者：
Ouyang, Yi;He, Zhiyi;Yuan, Liying
脊髓小脑性共济失调31型(SCA31)是近年来定义的常染色体显性遗传性小脑共济失调(ADCA)亚型，以晚发型纯性小脑性共济失调为特征。SCA31在日本很常见，但在其他国家是否存在仍不清楚。在这项研究中，作者描述了一例散发性的中国SCA31患者。虽然我们的散发性患者的主要临床特征，即迟发的小脑性共济失调和听力障碍与之前在日本描述的相似，但在我们的SCA31患者中发现了轻微的轴突感觉运动神经病，这与大多数先前关于该疾病的报道有所不同。这是《中国》中SCA31的首次报道：从而将民族联系扩大到日本血统以外的家庭。此外，我们的研究表明，SCA31的临床特征可能比之前认为的更广泛。(C)2012爱思唯尔B.V.保留所有权利。
Spinocerebellar ataxia type 31 (SCA31), is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by late-onset pure cerebellar ataxia. SCA31 is common in Japan but whether or not it exists in other countries is still unclear. In this study, the authors describe a sporadic Chinese patient with SCA31. Although the cardinal clinical features, i.e., late-onset cerebellar ataxia and hearing impairment in our sporadic patient were similar to those described previously in Japan, mild axonal sensorimotor neuropathy was identified in our SCA31 patient, which is somewhat distinct from most prior reports of the disease. This is the first report of SCA31 in China: thus, extending the ethnic association beyond families of Japanese origin. In addition, our study suggests that the clinical features of SCA31 might be broader than previously thought. (C) 2012 Elsevier B.V. All rights reserved.