The epidemiology and genetics of Amyotrophic lateral sclerosis in China

被引:41
作者
Liu, Xiaolu [1 ]
He, Ji [1 ]
Gao, Fen-Biao [2 ]
Gitler, Aaron D. [3 ]
Fan, Dongsheng [1 ]
机构
[1] Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China
[2] Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA 01605 USA
[3] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA
关键词
Amyotrophic lateral sclerosis; C90RF72; China; Epidemiology; Genetics; SOD1; MOTOR-NEURON DISEASE; FRONTOTEMPORAL DEMENTIA; CLINICAL-FEATURES; REPEAT EXPANSION; MUTATIONS; ALS; RISK; SUSCEPTIBILITY; PREVALENCE; SURVIVAL;
D O I
10.1016/j.brainres.2018.02.035
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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 C90RF72 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. (C) 2018 Elsevier B.V. All rights reserved.
引用
收藏
页码:121 / 126
页数:6
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