中国遗传性共济失调诊治专家共识2024  

Chinese expert consensus on the diagnosis and treatment of hereditary ataxia 2024

作　　者：中华医学会神经病学分会神经遗传学组 江泓[2] 吴志英[3] Chinese Society of Neurogenetics;Jiang Hong;Wu Zhiying(不详;Department of Neurology,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Medical Genetics and Center for Rare Diseases,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China)

机构地区：[1]不详 [2]中南大学湘雅医院神经内科,长沙410008 [3]浙江大学医学院附属第二医院医学遗传科,罕见病诊治中心,杭州310009

出　　处：《中华神经科杂志》2024年第4期315-325,共11页Chinese Journal of Neurology

摘　　要：遗传性共济失调(HA)是一大类具有高度临床和遗传异质性的神经遗传性疾病。为提高临床医师对HA的认识及诊治水平,我国HA诊治领域的专家在2015版《遗传性共济失调诊断与治疗专家共识》的基础上进行了更新和完善,并在中华医学会神经病学分会神经遗传学组会议上反复讨论修改后定稿,进一步制订了此共识。共识内容包括HA的分子分型、临床表现、辅助检查、诊断、鉴别诊断、治疗及遗传咨询等。Hereditary ataxia(HA)is a group of neurogenetic diseases with high clinical and genetic heterogeneity.In order to improve the understanding of this disease,experts in the field of HA in China have improved and revised the 2015 version of the"Expert consensus on the diagnosis and treatment of genetic ataxia"and developed this consensus.The revised consensus has been repeatedly discussed and finalized at meetings of Chinese Society of Neurogenetics.This consensus includes molecular genetics,clinical manifestations,diagnostic tests,diagnosis and differential diagnosis,treatment,and genetic counseling of HA.

关 键 词：遗传性共济失调 诊断 治疗 专家共识 

分 类 号：R744.7[医药卫生—神经病学与精神病学]