GNAO1基因相关肌张力障碍  

GNAO1 gene-related dystonia

作　　者：秦劭晨 李顔婧 李一锋 吴逸雯[1] Qin Shaochen;Li Yanjing;Li Yifeng;Wu Yiwen(Department of Neurology,Center for Diagnosis and Treatment of Parkinson's Disease,Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China;Department of Neurology,Chenzhou First People's Hospital,Chenzhou 423000,China;Department of Neurology,the Hospital Afiliated to Shanxi University of Chinese Medicine,Taiyuan 030024,China)

机构地区：[1]上海交通大学医学院附属瑞金医院神经内科、帕金森病研究中心,上海200025 [2]郴州市第一人民医院神经内科,郴州423000 [3]山西中医药大学附属医院神经内科,太原030024

出　　处：《中华神经科杂志》2024年第11期1263-1268,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金面上项目(81870887,82171239);上海交通大学医学院研究型医师项目。

摘　　要：肌张力障碍是一种以持续或间歇性的肌肉收缩导致不自主的异常运动和(或)姿势的运动障碍病。近年来,肌张力障碍疾病在遗传学方面取得了飞速发展,常见肌张力障碍的基因及相关表型已被大家所熟知。然而,GNAO1作为与肌张力障碍密切相关的基因之一,尚未被大部分临床医师所了解。文中对GNAO1基因相关肌张力障碍的分子遗传学特征、临床特点及治疗策略进行综述,旨在增加临床医师对GNAO1基因相关肌张力障碍疾病的认识,避免在临床诊疗中出现漏诊和误诊。Dystonia is a movement disorder characterized by involuntary abnormal movements or postures due to sustained or intermittent muscle contractions.In recent years,rapid progress has been achieved in the genetics of this disease,leading to an in-depth understanding of common genes and phenotypes related to dystonia.GNAO1 is one of the genes closely associated with dystonia.GNAO1 gene,nevertheless,remains largely unknown to most clinicians.This article reviews the molecular genetic features,clinical characteristics,and therapeutic strategies of GNAO1 gene-associated dystonia,thereby increasing the knowledge of clinicians about GNAO1 gene-associated dystonia and preventing underdiagnosis and misdiagnosis in clinical practice.

关 键 词：肌张力障碍 GNAO1基因 运动障碍 

分 类 号：R741[医药卫生—神经病学与精神病学]