特发性震颤的遗传病因学研究进展  

Advances in genetic etiology of essential tremor

作　　者：刘雪莹 班昕 王勋[1] 代大伟[1] 张黎明[1] LIU Xueying;BAN Xin;WANG Xun;DAI Dawei;ZHANG Liming(The First Affiliated Hospital of Harbin Medical University,Harbin 150001,China)

机构地区：[1]哈尔滨医科大学附属第一医院,黑龙江哈尔滨150001

出　　处：《中国实用神经疾病杂志》2022年第1期107-111,共5页Chinese Journal of Practical Nervous Diseases

摘　　要：震颤被定义为身体某一部位无意识的、节律性、振荡性的运动,而特发性震颤(ET)是一种常见的运动障碍性疾病,也是病理性震颤最常见的原因,约4%的成年人受其影响,且患病率随着年龄增长而增加。在50%~70%的受影响个体中,ET是一种遗传性疾病(并可能包含常染色体显性遗传),但其致病基因仍然不明。迄今为止,无论是连锁、全基因组关联,还是候选基因的病例对照关联研究,都无法最终确定导致特发性震颤的任何基因。本文总结了关于特发性震颤遗传学的相关文献及最新进展。Tremor,defined as unconscious,rhythmic,oscillatory movement of a part of the body,essen⁃tial tremor(ET)is a common movement disorder and the most common cause of pathological tremor,affecting about 4%of the adult population,and the prevalence increases with age.In 50%to 70%of affected individuals,ET is a kind of hereditary disease(and may contain autosomal dominant inheritance),but the disease-causing genes remain unknown.So far,whether linkage,genome-wide association,or case-control association studies of candidate genes,can eventually determine any genes lead to ET.In this review,we summarize the related litera⁃ture and the latest progress on the genetics of essential tremor.

关 键 词：特发性震颤 遗传学 基因 全基因组关联研究 全外显子组测序 

分 类 号：R742.5[医药卫生—神经病学与精神病学]