ATL1基因突变导致的进行性肌阵挛-共济失调综合征1例报道并文献复习  

A case report of progressive myoclonus-ataxia syndrome caused by ATL1 gene mutation and literature review

作　　者：赵赫 钟利群[2] 果海姣 陈白雪 吕静敏 陈旭 杨杰[3] 卫景沛 ZHAO He;ZHONG Liqun;GUO Haijiao;CHEN Baixue;LYU Jingmin;CHEN Xu;YANG Jie;WEI Jingpei(The First Clinical Medical School,Beijing University of Chinese Medicine,Beijing100029,China;the First Department of Neurology,Dongzhimen Hospital,Beijing University of Chinese Medicine,Beijing100700,China;Chinese Medicine Data Center,Chinese Academy of Chinese Medical Sciences,Beijing100700,China)

机构地区：[1]北京中医药大学第一临床医学院,北京100029 [2]北京中医药大学东直门医院脑病一科,北京100700 [3]中国中医科学院中医药数据中心,北京100700

出　　处：《中国医药导报》2023年第12期177-180,共4页China Medical Herald

基　　金：国家重点研发计划中医药现代化研究重点专项项目(2017YFC1703502)。

摘　　要：本文回顾性分析了北京中医药大学东直门医院脑病一科收治的1例进行性肌阵挛-共济失调综合征患者的临床资料,对其临床特点、诊断和治疗进行讨论。该患者以肌阵挛起病,逐渐出现共济失调的症状,分子遗传学检测提示ATL1基因杂合突变,口服氯硝西泮片后肌阵挛症状缓解。通过对该患者诊治过程及临床资料进行分析,并对本病分子遗传学相关文献报道进行复习,为这一疾病的临床诊断提供经验,以供临床医生参考。This paper retrospectively analyzes the clinical data of a patient with progressive myoclonus-ataxia admitted to the First Department of Neurology,Dongzhimen Hospital,Beijing University of Chinese Medicine,and discusses its clinical characteristics,diagnosis,and treatment.The patient started with myoclonus,and gradually developed symptoms of ataxia.Molecular genetic testing revealed a heterozygous mutation of the ATL1 gene.After oral administration of Clonazepam,the symptoms of myoclonus were relieved.This paper analyzes the diagnosis and treatment process and clinical data of the patient and reviews the literature reports related to the molecular genetics of the disease,providing experience for the clinical diagnosis of this disease for the reference of clinicians.

关 键 词：肌阵挛 共济失调 进行性肌阵挛-共济失调综合征 ATL1 遗传性痉挛性截瘫 

分 类 号：R74[医药卫生—神经病学与精神病学]