发作性运动诱发性运动障碍一家系临床与遗传学特点

2016-08-03毕光辉曲星华张慧芳孙淑贞

中国神经精神疾病杂志 2016年4期

毕光辉　　曲星华张慧芳　　孙淑贞

毕光辉*曲星华*张慧芳*孙淑贞*

目的探讨家族性发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）临床及遗传学特点。方法对1个PKD家系共14名成员进行PRRT2基因检测及调查随访，其中患病2例（1例住院治疗，另1例未治疗），总结分析其临床表现、遗传特点、药物治疗效果及预后。结果该家系2例患者均为男性，患病率14.3%，其中1例不治自愈，1例用卡马西平疗效显著，用拉莫三嗪也有效。该家系为单纯性PKD家系，PRRT2基因检测结果显示该家系中3例存在突变c.797G＞A（p.266R＞Q），其中1例无临床症状，符合常染色体显性遗传，伴不全外显，存在遗传早现；该家系合并存在多囊肾家族史。结论单纯家族性PKD抗癫痫药物疗效与突变类型及临床特征有关；治疗方案选择应以临床特点及突变类型为依据。

运动诱发性运动障碍临床特征遗传学抗癫痫药

【Abstract】Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesia （PKD）.Methods The clinical information of 14 family members in one pedigree，including 2 patients（one treated in hos⁃pital，the other not treated）were analyzed and the response to treatment and prediction were followed up.DNA was ex⁃tracted from peripheral blood samples，and then screened for PRRT2 mutations.Results There were two male patients in the pure PKD pedigree，Prevalence rate was 14.3%，One of the PKD patients showed good response to carbamazepine as well as lamotrigine whereas other patients recovered without treatment.We detected a nonsense mutation c.797G＞A （p.266R＞Q）in PRRT2 gene in three family members.One affected member harboring PRRT2 mutation resulted from the incomplete penetrance of the disease，PKD and polycystic kidney disease coexist in the pedigree which showed autoso⁃mal dominant inheritance with incomplete penetrance and anticipation.Conclusions The curative effect of antiepileptic drugs to purely familial PKD is related to mutations and clinical features；Treatments should be decided based upon clini⁃cal features and mutations.

【Key words】Paroxysmal kinesigenic dyskinesias Clinical features Hereditary Antiepileptic drugs

发作性运动障碍（paroxysmal dyskinesias，PxDs）是一组少见的神经系统发作性疾病，目前根据诱发因素可将其分为4种类型，即发作性运动诱发性运动障碍（paroxysmal kinesigenic dyskinesia，PKD）、发作性过度运动诱发性运动障碍、发作性非运动诱发性运动障碍及发作性夜间睡眠性运动障碍［1-3］。PKD是最常见的发作类型，是一种高度异质性疾病，该病的首个致病基因PRRT2（proline⁃rich transmembrane protein 2）于2011年被克隆［4-6］。本文对一单纯PKD家系进行研究，旨在进一步了解其临床及其遗传学特点。