摘要
特发性震颤是临床常见的运动障碍性疾病,家族聚集性提示遗传因素在其发病机制中起重要作用。随着基因检测技术的迅速发展和广泛应用,越来越多的特发性震颤相关致病基因以及风险或保护基因被发现。不同基因的表达部位和细胞功能也为特发性震颤的发病机制研究奠定了基础。本文综述特发性震颤相关基因研究进展,以为临床研究提供指导。
Essential tremor(ET)is a common movement disorder.The phenomenon of familial aggregation suggests genetic factors play important role in its etiology.With the rapid development and wide application of gene sequencing technologies,more and more essential tremor related pathogenic genes and risk/protective genes have been discovered.The express location and cell function of different genes also laid a foundation for the study of the mechanism of essential tremor.In this study,the progress of genes related to essential tremor are reviewed to provide guidance for clinical research.
作者
万雅兰
王朝霞
WAN Ya-lan;WANG Zhao-xia(Department of Neurology,Peking University First Hospital,Beijing 100034,China)
出处
《中国现代神经疾病杂志》
CAS
北大核心
2021年第6期519-526,共8页
Chinese Journal of Contemporary Neurology and Neurosurgery
基金
北京大学医学部-乌尔姆大学神经科学联合研究中心资助项目(项目编号:PKU2017ZC001-4)。
关键词
特发性震颤
基因
综述
Essential tremor
Genes
Review
