Department of Neurology, First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China.
J Neurol Sci. 2012 May 15;316(1-2):164-7. doi: 10.1016/j.jns.2012.02.005. Epub 2012 Feb 20.
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.
脊髓小脑性共济失调 31 型（SCA31）是一种新近定义的常染色体显性小脑共济失调（ADCA）亚型，其特征为晚发性纯小脑共济失调。SCA31 在日本很常见，但在其他国家是否存在尚不清楚。在本研究中，作者描述了一例散发性中国 SCA31 患者。尽管我们的散发性患者的主要临床特征，即晚发性小脑共济失调和听力障碍，与先前在日本描述的相似，但我们的 SCA31 患者存在轻度轴索性感觉运动神经病，这与大多数先前的报道有所不同。这是中国首例 SCA31 的报告；因此，将该病的种族关联扩展到了日本裔家族之外。此外，我们的研究表明，SCA31 的临床特征可能比先前认为的更广泛。
