目的:探讨遗传因素对良性特发性眼睑痉挛(BEB)的可能影响。方法:选择2015年4月至2015年10月在武汉大学人民医院神经内科运动障碍专病门诊就诊的BEB患者20例。采取问卷调查的方式详细调查患者的情况,调查内容包括一般情况、病史摘要、治疗情况、既往病史(高血压病、糖尿病、脑外伤等)、家族史、危险/保护因素调查(吸烟、饮酒、饮茶、咖啡等)。在患者知情同意的情况下,抽取患者静脉血3-5ml。采用二代测序方法,检测可能导致运动障碍临床表现各类疾病相关的基因共151种,包括肌张力障碍27种、发作性共济失调4种、发作性运动诱发性运动障碍2种、发作性非运动诱发性运动障碍1种、特发性震颤3种、帕金森病78种以及ADCK3、AFG3L2、ANO10等。结果:20例患者中,男3例、女17例,平均年龄55.25(31-72)岁,病程平均6.15(1-24)年;有家族史者2例。未发现任何一种基因突变者2例;检测出两种基因突变者7例;SYNE1基因突变7例,CIZ1基因突变2例,CACNA1A基因突变2例,LRRK2基因突变2例,FUS基因突变2例;C10orf2、TPP1、SLC1A3、PNKD、EIF4G1、SETX、PRRT2、SPTBN2和TTBK2基因突变者各1例。结论:眼睑痉挛和其它肌张力障碍性疾病一样,存在遗传学基础。CIZ1和SYNE1基因突变极有可能与眼睑痉挛有关。我们需要扩大样本量来进一步筛选基因,或通过家系研究来寻找易感基因。并进一步在动物实验中验证。 Objective: To investigate the possible influence of genetic factors on benign and idiopathic blepharospasm (BEB). Methods: From April 2015 to October 2015, 20 BEB patients were selected from Department of Neurology, Department of Neurology, Wuhan University People’s Hospital. A survey was conducted to investigate patients in detail. The survey included general information, history of the disease, treatment history, previous medical history (hypertension, diabetes mellitus, traumatic brain injury, etc.), family history, risk / protection factors Drink tea, coffee, etc.). In patients with informed consent, the patient’s venous blood drawn 3-5ml. A total of 151 genes related to various clinical manifestations of dyskinesia were detected by the second generation sequencing method, including 27 kinds of dystonia, 4 episodes of ataxia, 2 kinds of episodic motor-induced dyskinesia, 1 kind of non-exercise-induced dyskinesia, 3 kinds of idiopathic tremor, 78 kinds of Parkinson’s disease and ADCK3, AFG3L2 and ANO10. Results: Among the 20 patients, there were 3 males and 17 females, with an average age of 55.25 (range, 31-72) years and a mean duration of 6.15 (range, 1-24) years. There were 2 family history patients. No mutation was detected in 2 cases. Seven mutations were detected in 2 genes: 7 cases of SYNE1 mutation, 2 cases of CIZ1 gene mutation, 2 cases of CACNA1A gene mutation, 2 cases of LRRK2 gene mutation and 2 cases of FUS gene mutation ; 1 case of mutations of C10orf2, TPP1, SLC1A3, PNKD, EIF4G1, SETX, PRRT2, SPTBN2 and TTBK2 respectively. Conclusions: Blepharospasm, like other dystonia diseases, has a genetic basis. Mutations in CIZ1 and SYNE1 are most likely associated with blepharospasm. We need to expand the sample size to further screen for genes, or to find susceptibility genes through pedigree studies. And further verified in animal experiments.