原发性肌张力障碍相关DYT1基因研究进展

摘要

Primary dystonia is a hereditary disease of the nervous system,which is related to gene mutations.DYT1 (dystonia gene 1) is the most common one among them and its structure and pathogenic mechanisms are increasingly clear,which is very significant for the diagnosis and treatment of the disease.On one hand,some atypical cases in clinical can be diagnosed by genetic testing and progression of them can be predicted.On the other hand,a new treatment strategy,gene therapy is suggested recently after mastering the pathogenic mechanism of the DYT1 gene because the traditional therapy (including drug therapy and stereotactic surgery) is symptomatic treatment and has many side effects.In addition,the efficacy is not affirmative.Gene therapy is expected to cure such genetic diseases completely and has brought hope for the rehabilitation of many patients.%原发性肌张力障碍是一种遗传性神经系统疾病,其发病与基因突变有关.其中,DYT1是最常见的突变基因,其结构和致病机制日益明确,这对该病的诊治意义重大.在诊断方面,一些临床表现不典型病例可以通过基因检测而明确诊断,并对病情发展进行预测.在治疗方面,DYT1肌张力障碍的传统治疗(主要包括药物治疗和立体定向手术治疗)均是对症治疗,而且不良反应多,疗效不确切.近年来,掌握DYT1基因的致病机制后提出一种新的治疗策略即基因治疗,这是一种可能彻底治愈此类遗传性疾病的方法,为广大患者的康复带来了希望.