Li Shu-Ting, Zhou Yang
Department of General Medicine, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Department of Neurology, Jinhua Hospital, Jinhua, China.
J Int Med Res. 2019 Dec;47(12):6390-6396. doi: 10.1177/0300060519889457. Epub 2019 Nov 27.
Spinocerebellar ataxia type 2 (SCA2) is a rare disease characterized by slowly progressive ataxia, dysarthria, ophthalmoplegia, and slow saccade. SCA2 can present with a complex combination of hyperkinetic and hypokinetic movement disorders. Here, we describe a patient with SCA2 that partly mimicked the clinical manifestations of Huntington’s disease; similar symptoms had previously occurred in the patient’s family members. The findings in this report indicate that, when a patient exhibits choreiform movement (i.e., accompanying cerebellar ataxia), an SCA2-related mutation could be responsible for the onset of disease. In addition, this knowledge of the potential for extrapyramidal involvement in such patients is critical for clinicians.
2型脊髓小脑共济失调（SCA2）是一种罕见疾病，其特征为缓慢进展的共济失调、构音障碍、眼肌麻痹和缓慢扫视。SCA2可表现为运动亢进和运动减退性运动障碍的复杂组合。在此，我们描述了一名SCA2患者，其部分临床表现类似于亨廷顿舞蹈症；类似症状此前也出现在该患者的家庭成员中。本报告中的研究结果表明，当患者出现舞蹈样动作（即伴有小脑共济失调）时，SCA2相关突变可能是发病原因。此外，了解此类患者锥体外系受累的可能性对临床医生至关重要。
