Jagota Priya, Lim Shen-Yang, Pal Pramod Kumar, Lee Jee-Young, Kukkle Prashanth Lingappa, Fujioka Shinsuke, Shang Huifang, Phokaewvarangkul Onanong, Bhidayasiri Roongroj, Mohamed Ibrahim Norlinah, Ugawa Yoshikazu, Aldaajani Zakiyah, Jeon Beomseok, Diesta Cid, Shambetova Cholpon, Lin Chin-Hsien
Chulalongkorn Centre of Excellence for Parkinson's Disease and Related Disorders, Department of Medicine, Faculty of Medicine Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society Bangkok Thailand.
Division of Neurology, Department of Medicine, Faculty of Medicine University of Malaya Kuala Lumpur Malaysia.
Mov Disord Clin Pract. 2023 May 8;10(6):878-895. doi: 10.1002/mdc3.13737. eCollection 2023 Jun.
The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, -related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.
分子遗传学检测的日益普及改变了基因研究和临床实践的格局。不仅新的致病基因的发现速度在加快，而且与先前已知基因相关的表型谱也在扩大。这些进展使人们意识到，一些遗传性运动障碍可能在某些种族人群中聚集，基因多效性可能导致特定种族群体出现独特的临床表现。因此，不同人群中运动障碍的特征、遗传学和风险因素可能有所不同。识别特定的临床表型，并结合患者的种族来源信息，可能有助于早期正确诊断，并促进为这些疾病患者开发未来的个性化医学。在此，亚洲运动障碍特别工作组旨在回顾亚洲常见的遗传性运动障碍，包括威尔逊病、12型、31型和36型脊髓小脑共济失调、格斯特曼-施特劳斯勒-谢inker病、相关帕金森综合征、成人发病的神经元核内包涵体病（NIID）和发作性运动诱发性运动障碍。我们还回顾了全球常见的、在亚洲人身上经常出现特定突变或表现的疾病。
