Liu Xiaolu, He Ji, Gao Fen-Biao, Gitler Aaron D, Fan Dongsheng
Department of Neurology, Peking University Third Hospital, Beijing 100191, PR China.
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Brain Res. 2018 Aug 15;1693(Pt A):121-126. doi: 10.1016/j.brainres.2018.02.035. Epub 2018 Mar 1.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with loss of motor neurons. Previous knowledge of the disease has been mainly based on studies from Caucasian ALS patients of European descent. Here we review the epidemiological characteristics of ALS among the Chinese population in order to compare the similarities and differences between Chinese ALS cases and those from other countries. We describe a potential lower incidence and prevalence of ALS, a younger age of onset and a lower proportion of familial ALS cases in the Chinese population. Additionally, we highlight potential genetic differences between Chinese and Caucasian ALS patients. Most notably, the frequency of GGGGCC repeat expansions in C9ORF72 in Chinese ALS is significantly lower than in Caucasians. Since some conclusions might not be consistent across all of the studies around China to date, we suggest that it is necessary to carry out a prospective population-based study and large-scale gene sequencing around to better define epidemiological and genetic features of Chinese ALS patients.
肌萎缩侧索硬化症（ALS）是一种与运动神经元丧失相关的致命性神经退行性疾病。此前对该疾病的了解主要基于对欧洲血统的白种人ALS患者的研究。在此，我们回顾中国人群中ALS的流行病学特征，以比较中国ALS病例与其他国家病例之间的异同。我们描述了中国人群中ALS可能较低的发病率和患病率、较早的发病年龄以及较低比例的家族性ALS病例。此外，我们强调了中国和白种人ALS患者之间潜在的基因差异。最显著的是，中国ALS患者中C9ORF72基因中GGGGCC重复扩增的频率显著低于白种人。由于迄今为止中国各地的所有研究得出的一些结论可能不一致，我们建议有必要开展一项基于人群的前瞻性研究并进行大规模基因测序，以更好地界定中国ALS患者的流行病学和基因特征。
