Park Hyeyoung, Kim Han-Joon, Jeon Beom S
Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Hospital, Seoul National University, Seoul 110-744, Republic of Korea.
Biomed Res Int. 2015;2015:125273. doi: 10.1155/2015/125273. Epub 2015 Mar 19.
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype. Herein, we reviewed the epidemiologic, clinical, genetic, and pathologic features of parkinsonism in SCAs.
脊髓小脑共济失调（SCA）呈现出异质性临床表型，且不同SCA亚型中均有帕金森综合征的报道。左旋多巴反应性帕金森病（PD）样表型和非典型帕金森综合征均有描述，尤其在SCA2、SCA3和SCA17中，且患病率存在地域差异。SCA2是全球范围内报道的与帕金森综合征相关的最常见SCA亚型。SCA2中的帕金森综合征具有独特的遗传特征，如重复序列数量少和结构中断，这可能解释了低外显率的散发病例。SCA17中的帕金森综合征在亚洲人群中更为显著，尤其是在韩国。此外，病理范围的截断值不明确是SCA17相关帕金森综合征的关键问题。SCA3在西方队列中更为常见。SCA6和SCA8也有PD样表型的报道。在此，我们综述了SCA中帕金森综合征的流行病学、临床、遗传和病理特征。
