Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
Neurology Unit, Department of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
Parkinsonism Relat Disord. 2021 Nov;92:112-118. doi: 10.1016/j.parkreldis.2021.10.023. Epub 2021 Oct 22.
This paper reviews and summarizes three main aspects of spinocerebellar ataxias (SCA) in the Asian population. First, epidemiological studies were comprehensively reviewed. Overall, the most common subtypes include SCA1, SCA2, SCA3, and SCA6, but there are large differences in the relative prevalence of these and other SCA subtypes between Asian countries. Some subtypes such as SCA12 and SCA31 are rather specific to certain Asian populations. Second, we summarized distinctive phenotypic manifestations of SCA patients of Asian origin, for example a frequent co-occurrence of parkinsonism in some SCA subtypes. Lastly, we have conducted an exploratory survey study to map SCA-specific expertise, resources, and management in various Asian countries. This showed large differences in accessibility, genetic testing facilities, and treatment options between lower and higher income Asian countries. Currently, many Asian SCA patients remain without a final genetic diagnosis. Lack of prevalence data on SCA, lack of patient registries, and insufficient access to genetic testing facilities hamper a wider understanding of these diseases in several (particularly lower income) Asian countries.
这篇论文综述和总结了亚洲人群中脊髓小脑共济失调（SCA）的三个主要方面。首先，全面回顾了流行病学研究。总体而言，最常见的亚型包括 SCA1、SCA2、SCA3 和 SCA6，但这些和其他 SCA 亚型在亚洲国家之间的相对流行率存在很大差异。某些亚型，如 SCA12 和 SCA31，在某些亚洲人群中相当特异。其次，我们总结了亚洲起源的 SCA 患者的独特表型表现，例如某些 SCA 亚型中帕金森病的频繁共病。最后，我们进行了一项探索性调查研究，以绘制亚洲各国 SCA 特定专业知识、资源和管理的图谱。这表明在较低和较高收入的亚洲国家之间，可及性、基因检测设施和治疗选择存在很大差异。目前，许多亚洲 SCA 患者仍然没有明确的基因诊断。SCA 的患病率数据缺乏、患者登记处不足以及基因检测设施获取不足，阻碍了对几个（特别是低收入）亚洲国家这些疾病的更广泛了解。
