上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2017, Vol. 37 ›› Issue (6): 774-.doi: 10.3969/j.issn.1674-8115.2017.06.011

• 论著（临床研究） • 上一篇    下一篇

发作性过度运动诱发性运动障碍家系报道及突变分析

田沃土，曹立   

  1. 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，上海 200025
  • 出版日期:2017-06-28 发布日期:2017-07-05
  • 通讯作者: 曹立，电子信箱：caoli2000@yeah.net
  • 作者简介:田沃土（1992—），女，硕士生；电子信箱：wotu_tian@163.com
  • 基金资助:

    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）

Analysis of clinical and genetic features of one Chinese family with paroxysmal exercise-induced dyskinesia

TIAN Wo-tu, CAO Li   

  1. Department of Neurology, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2017-06-28 Published:2017-07-05
  • Supported by:

    National Natural Science Foundation of China, 81571086; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20161401; Interdisciplinary Project of Shanghai Jiao Tong University, YG2016MS64

PDF (PC)

874

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。

关键词: 发作性过度运动诱发性运动障碍, 临床特点, 遗传学, SLC2A1, 癫痫

Abstract:

Objective · To study the clinical and genetic features of familial paroxysmal exercise-induced dyskinesia (PED) in a Chinese mainland family, and review the advances of clinical and genetic studies on PED.  Methods · The clinical information of 7 family members in one Chinese pedigree, including 5 patients and 2 healthy people, was analyzed and the patients’ response to treatment and prediction were followed up. The SLC2A1 gene in all 7 members of this family was sequenced. The clinical and genetic characteristics of 5 patients were analyzed. Advances of recent clinical and genetic studies related with PED were further reviewed.  Results · Among the total 5 patients (male : female=1:4), four patients had pure form of PED, and one patient had PED plus epilepsy. Attacks of the proband and his daughter could not be well controlled by carbamazepine or sodium valproate. In addition, three patients showed a remission trend with age advancing. In this family, the SLC2A1 c.C284T (p.S95L) was identified in all 5 patients, but not in 2 healthy members. According to the American College of Medical Genetics and Genomics (ACMG) criteria and guideline, the variant SLC2A1 c.C284T (p.S95L) was classified as “pathogenic variant”.  Conclusion · PED is a rare paroxysmal movement disorder with highly phenotypic heterogeneity as well as a remission trend with age advancing. This paper reviews advances in clinical and genetic studies on PED recently, in order to contribute to the clinical diagnosis and appropriate treatment of PED.

Key words: paroxysmal exercise-induced dyskinesia, clinical features, genetics, SLC2A1, epilepsy