Li Hong-Lei, Zhang Yan-Bin, Wu Zhi-Ying
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, China.
Department of Neurology and Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Neurosci Bull. 2017 Jun;33(3):312-316. doi: 10.1007/s12264-016-0093-y. Epub 2016 Dec 28.
Huntington disease (HD) is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary movements, cognitive dysfunction, and psychiatric or behavioral disturbance. It results from an expansion in the number of CAG repeats in the first exon of the huntingtin (HTT) gene. In China, since the first case report in 1959, the knowledge of this disorder has been involving a lot, especially in the latest decade. In this review, we meta-analysis and summarize the research reports that were published by Chinese researchers since 1959, so that researchers whose native language were not Chinese can get a general idea of the research development of HD in China. Briefly, the research of HD in China can be broadly divided into three stages. Firstly, before 1993, there were scattered case reports of HD that were solely based on Clinical features and family history. Then, with the discovery of the HD gene in 1993, it became possible for the genetic confirmation of the reported cases that made the diagnosis more accurate and informative. In the last few years, Chinese researchers who were active in the HD research started to build their own database to study the clinical and genetic feature of this disorder and also collaborated a lot in this field. The progress outlined in this review indicates the beginning of an exciting new era in HD research in China.
亨廷顿舞蹈症(HD)是一种进行性常染色体显性遗传神经退行性疾病,其典型表现为不自主运动、认知功能障碍以及精神或行为紊乱。它是由亨廷顿(HTT)基因第一外显子中CAG重复序列数量的扩增所致。在中国,自1959年首例病例报告以来,人们对这种疾病的认识有了很大进展,尤其是在最近十年。在本综述中,我们对1959年以来中国研究人员发表的研究报告进行荟萃分析和总结,以便母语非中文的研究人员能够大致了解中国HD的研究进展。简而言之,中国HD的研究大致可分为三个阶段。首先,1993年之前,有一些基于临床特征和家族史的HD散发病例报告。然后,随着1993年HD基因的发现,对报告病例进行基因确认成为可能,这使得诊断更加准确和信息丰富。在过去几年中,积极参与HD研究的中国研究人员开始建立自己的数据库,以研究这种疾病的临床和遗传特征,并且在该领域也开展了大量合作。本综述中概述的进展表明中国HD研究一个令人兴奋的新时代的开端。