携带PRRT2基因c.649dupC突变的发作性运动诱发性运动障碍临床表型总结  

Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia with c.649dupC mutation of PRRT2 gene.

作　　者：刘晓黎 詹飞霞 黄啸君[3] 田沃土 李资益 曹立 LIU Xiaoli;ZHAN Feixia;HUANG Xiaojun;TIAN Wotu;LI Ziyi;CAO Li(Department of Neurology,The Sixth People's Hospital,Shanghai Jiao Tong University,Shanghai 200233,China.)

机构地区：[1]上海市奉贤区中心医院(上海交通大学附属第六人民医院南院)神经内科,上海201400 [2]上海交通大学附属第六人民医院神经内科 [3]上海交通大学医学院附属瑞金医院神经病学研究所神经内科

出　　处：《中国神经精神疾病杂志》2022年第4期206-212,共7页Chinese Journal of Nervous and Mental Diseases

基　　金：上海市卫生和计划生育委员会科研课题(编号:20184Y0056);国家自然科学基金(编号:81870889,82071258)。

摘　　要：目的通过分析93例携带PRRT2基因c.649dupC突变的发作性运动诱发性运动障碍(paroxysmal kine⁃sigenic dyskinesia,PKD)患者的临床特点,总结该基因型的临床表型特征。方法收集93例携带PRRT2基因热点突变(c.649dupC)的原发性PKD患者临床资料,采用自行设计的发作性运动诱发性运动障碍登记表记录并整理,就其临床表型进行总结分析,并比较男性与女性以及家族性与散发性患者的临床表型差异。结果93例携带PRRT2基因热点突变的PKD患者男女比例为2.72∶1,平均发病年龄为(9.93±3.52)岁,平均就诊年龄为(23.98±8.92)岁;单纯型54例(58.06%)、复杂型39例(41.94%);87例(93.55%)发作前有预感;发作形式包括肌张力障碍44例(47.31%),舞蹈样动作5例(5.38%),或混合发作(47.31%)。散发性58例(62.37%)、家族性35例(37.63%),外显率为67.05%。62例(66.67%)服用抗癫药物患者中46例(74.19%)症状完全控制,14例(22.58%)发作频率下降但偶有发作,2例(3.23%)未见明显缓解。男性组面部累及比例低于女性组(P=0.017),家族性组面部累及比例低于散发性组(P=0.011)。结论PRRT2基因c.649dupC突变具有基因型-表型异质性,该基因型更容易表现为复杂型PKD,具有外显不全的遗传特点。Objective We aimed to summarize the clinical phenotypic characteristics of 93 paroxysmal kinesigenic dyskinesia(PKD)patients with c.649dupC mutation of PRRT2.Methods Ninety-three patients diagnosed as primary PKD with c.649dupC mutation of PRRT2 were recruited.For all of the participants,neurological examinations were conducted and clinical manifestations were recorded and summarized in self-designed uniform registration form for PKD patients.Clinical characteristics were statistically analyzed and compared between familial and sporadic,men and women PKD patients.Results Among all of the 93 PKD patients(c.649dupC)in the present study,the gender ratio was 2.72:1(male:female).The average age of onset was(9.93±3.52)years,and the average age of visit was(23.98±8.92)years.There were 54 patients(58.06%)manifested with pure form and 39(41.94%)with complicated form of PKD.Eighty-seven patients(93.55%)had premonitory symptom.The percentage of patients manifested as dystonia(47.31%,44/93),chorea(5.38%,5/93),mixed form(47.31%,44/93).There were 35 patients(32.82%)with family history of PKD and 58(62.37%)were sporadic PKD patients,and the overall penetrance was 67.05%.Among 62 patients(66.67%)prescribed with anticonvulsants,60 patients showed a good response,including complete control(n=46)and partial control(n=14),and 2 patients were non-responsive.The proportion of facial involvement was lower in male group than in female group(P=0.017)and was lower in familial group than in sporadic group(P=0.011).Conclusions The c.649dupC mutation of PRRT2 gene has genotype-phenotype heterogeneity.This genotype is more likely to show complicated PKD and has the genetic characteristics of incomplete penetrance.

关 键 词：PRRT2 PKD 热点突变 表型 基因型 c.649dupC 运动障碍 

分 类 号：R741[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]