发作性运动诱发性运动障碍一家系临床与遗传学特点

Analysis of clinical and genetic features of one family with paroxysmal kinesigenic dyskinesia

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。

Objective To study the clinical and genetic features of familial paroxysmal kinesigenic dyskinesia（PKD）.MethodsThe clinical information of 14 family members in one pedigree, including 2 patients（one treated in hospital, the other not treated） were analyzed and the response to treatment and prediction were followed up. DNA was extracted from peripheral blood samples, and then screened for PRRT2 mutations.ResultsThere 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.797GA（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 autosomal dominant inheritance with incomplete penetrance and anticipation.ConclusionsThe curative effect of antiepileptic drugs to purely familial PKD is related to mutations and clinical features;Treatments should be decided based upon clinical features and mutations.