原发性发作性运动障碍8例临床及基因学研究  

Clinical and genetic analysis of eight idiopathic cases of paroxysmal dyskinesia

作　　者：丁一峰[1] 张林妹[1] 潘岗[1] 周水珍[1] 安宇 李强 

机构地区：[1]复旦大学附属儿科医院神经内科,上海201102 [2]复旦儿童发育与疾病转化医学研究中心,上海201102

出　　处：《中国实用儿科杂志》2014年第4期272-276,共5页Chinese Journal of Practical Pediatrics

摘　　要：目的分析与探讨原发性发作性运动障碍(PD)的3种类型:发作性运动诱发性运动障碍(PKD)、发作性非运动诱发性运动障碍(PKND)、发作性劳累诱发性运动障碍(PED)临床特征、基因学研究及治疗与疗效。方法对2010年1月至2012年11月复旦大学附属儿科医院8例PD患儿进行表型分析。收集临床资料及外周血DNA,采用PCR和DNA直接测序方法进行PKD致病基因PRRT2基因、PNKD致病基因MR1基因和PED致病基因SLC2A1基因突变筛查。治疗并观察近期治疗疗效。结果 8例PD患儿中,PKD患儿4例、PNKD患儿2例、PED患儿2例。对3例PKD和1例PNKD进行PCR和DNA直接测序,未检出突变。对1例PED患儿进行PCR和DNA直接测序和比较基因组杂交(aCGH)检测,未检测突变。对3例PKD进行治疗,其中2例对奥卡西平治疗有效,1例对氯硝西泮治疗有效;对1例PNKD患儿进行氯硝西泮治疗有效;对1例PED患儿进行生酮饮食治疗近期有效。结论 PD存在临床表型和遗传异质性。PD有不同表型,不同表型有不同的治疗选择。Objective To analyze and investigate the clinical features, genes and therapy of paroxysmal kinesigenic dyskinesia （PKD） , paroxysmal nonkinesigenic dyskinesia （PNKD）and paroxysmal exercise-induced dyskinesia （PED）. Methods The phenotypes of eight sporadic cases of paroxysmal kinesigenic dyskinesia were analyzed.Genomic DNA was extracted from peripheral blood lymphocytes of five patients.The coding regions and flanking introns of the PRRT2, MRI and SLC2A1 genes were screened for mutations using PCR and direct DNA sequencing or array-based Comparative Genomic Hybridization （aCGH）.The clinical manifestations, clinical courses, investigations, treatments and oucomes of paroxysmal dyskinesias patients were analyzed Results In eight PD patients, there were four PKD patients, two PNKD patients and two PED patients. No mutations were identified in five PD patients. Two PKD patients who had tried oxcarbazepine had a favorable response and one responded well to clonazepam. A case of PNKD responded well to clonazepam. A case of PED responded well to ketogenic diet. Conclusion This study reports evidence of both elinical and genetic heterogeneity in PD. The choice of specific treatment should be based on different phenotype.

关 键 词：表型 基因 发作性运动障碍 发作性运动诱发性运动障碍 发作性非运动诱发性运动障碍 发作性劳累诱发性运动障碍 

分 类 号：R72[医药卫生—儿科]