PRRT2基因c.776del突变致发作性运动诱发性运动障碍1例

Paroxysmal motor induced dyskinesia caused by PRRT2 gene c.776del mutation

报道1例典型的发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)患者。该患者为26岁女性,病史10年,表现为安静状态下突然运动出现发作性四肢和头部舞蹈样动作,无感觉先兆,持续数十秒后自行缓解,发作时和发作间期意识清醒,存在明显家族史,神经系统查体正常,头颅磁共振及脑电图未见异常,基因检测结果显示,先证者及其有相似表型的父亲存在PRRT2基因c.776del移码突变。根据PKD诊断标准,该患者可确诊为PKD,经奥卡西平治疗1个月后症状明显缓解,预后较好。PKD为罕见的运动障碍疾病,该患者症状典型,其基因突变位点在人类基因突变数据库中尚未报道,因此,本文丰富了PKD致病基因突变谱,为PKD遗传咨询提供依据,同时可增加临床医生对该病的认知。

This article reported a typical case of paroxysmal kinesigenic dyskinesia(PKD).The patient was a 26-year-old female with a medical history of 10 years.The patient manifested as paroxysmal choreoathetosis of the limb and head triggered by sudden movement in a quiet state,without sensory aura.The symptoms resolved spontaneously after tens of seconds.She was conscious during and between attacks,had a clear family history and a normal neurological examination.No abnormalities were found in brain magnetic resonance image and electroencephalogram.Genetic test showed a frame-shift mutation of c.776del in PRRT2 gene of the proband and her father with similar phenotype.The patient was diagnosed with PKD according to the diagnostic criteria for PKD.The symptoms were significantly relieved after one month of oxcarbazepine treatment with good prognosis.PKD is a rare movement disorder.The patient has typical symptoms,and the mutation site has not been reported in the Human Gene Mutation Database.Therefore,this article enriched the pathogenic gene mutation spectrum of PKD,provided a basis for genetic counseling of PKD and increased the awareness of this rare disease among physicians.