发作性过度运动诱发性运动障碍家系报道及突变分析

发布时间：2018-03-17 10:57

本文选题：发作性过度运动诱发性运动障碍　切入点：临床特点　出处：《上海交通大学学报(医学版)》2017年06期 　论文类型：期刊论文

【摘要】：目的·探讨发作性过度运动诱发性运动障碍(PED)的临床及遗传学特点,并总结近年该疾病的研究进展。方法·对中国大陆一PED家系进行分析并总结临床特点、药物治疗效果及预后,对家系中5名患者和2名健康家属进行SLC2A1基因检测。进一步对该疾病的临床、遗传学和发病机制的研究进展作一综述。结果·该家系5名患者中包括4名女性和1名男性,其中4人表现为单纯型PED,1人表现为PED合并癫痫。先证者和其女儿服用卡马西平和丙戊酸钠治疗效果不佳。3人随年龄增长呈现发作逐渐减轻的倾向。该家系5名患者均存在突变SLC2A1 c.C284T(p.S95L),2名健康家属不存在该突变。根据ACMG标准和指南,对该突变位点进行致病性预测评估,评级为"致病"。结论·PED是一类罕见的发作性运动障碍,存在一定的临床异质性,并随年龄增长呈现自发缓解的倾向。目前该疾病致病机制未明,总结该病遗传学与发病机制的研究进展可为该病的临床诊断和治疗提供帮助。
[Abstract]:Objective: to investigate the clinical and genetic characteristics of paroxysmal hyperkinesis-induced dyskinesia (PED), and to summarize the research progress of the disease in recent years. Methods: a family of PED in mainland China was analyzed and the clinical characteristics were summarized. The effect of drug therapy and prognosis, 5 patients and 2 healthy family members in family were detected for SLC2A1 gene. A review of research progress in genetics and pathogenesis. Results: five patients in the family included 4 women and 1 man. Among them, 4 patients showed simple PEDX and 1 presented with PED with epilepsy. The proband and his daughter were treated with carbamazepine and valproate sodium. 3. 3 people showed a tendency to gradually decrease with age. 5 patients in this family were suffering from epilepsy. All of them had a mutation, SLC2A1 c.C284T, p. S95L, and 2 healthy family members did not. According to the ACMG criteria and guidelines, The pathogenicity of the mutation site was evaluated as "pathogenicity". Conclusion 路PED is a rare paroxysmal motor disorder with clinical heterogeneity. At present, the pathogenesis of the disease is not clear. The research progress in genetics and pathogenesis of the disease may be helpful for the clinical diagnosis and treatment of the disease.
【作者单位】：上海交通大学医学院附属瑞金医院神经内科神经病学研究所;
【基金】：国家自然科学基金(81571086) 上海市教育委员会高峰高原学科建设计划(20161401) 上海交通大学多学科交叉培育项目(医工)(YG2016MS64)~~
【分类号】：R741

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