上海交通大学学报（医学版）
• 综述 • 上一篇 下一篇
田沃土，刘晓黎，曹立
出版日期:
发布日期:
通讯作者:
作者简介:
基金资助:
国家自然科学基金（81571086，81271262）
TIAN Wo-tu, LIU Xiao-li, CAO Li
Online:
Published:
Supported by:
National Natural Science Foundation of China，81571086，81271262
摘要：
发作性非运动诱发性运动障碍是一组由摄入茶、咖啡或酒精以及疲劳等非运动因素所诱发的非随意运动障碍性疾病，具有临床及遗传异质性。家族性发作性非运动诱发性运动障碍主要呈常染色体显性遗传。目前发现的相关致病基因包括PNKD1(MR-1)、PRRT2、PNKD2、KCNMA1及SLC2A1等。现对该病的临床及遗传学研究进展作一综述，希望对发病机制的研究提供帮助。
关键词: 发作性非运动诱发性运动障碍, 临床特点, 遗传学
Abstract:
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder characterized by intermittent attacks of involuntary movements that are induced by intake of tea, coffee, or alcohol and fatigue with clinical and genetic heterogeneity．Familial PNKD is mostly presented with autosomal dominant inheritance. PNKD1 (MR-1), PRRT2, PNKD2, KCNMA1, and SLC2A1 have been identified as the pathogenic genes for PNKD. This paper reviews advances in clinical and genetic studies on PNKD in order to contribute to the research on the pathogenesis of PNKD.
Key words: paroxysmal nonkinesigenic dyskinesia, clinical features, genetics
田沃土，刘晓黎，曹立. 发作性非运动诱发性运动障碍临床特点及遗传学研究进展[J]. 上海交通大学学报（医学版）, doi: 10.3969/j.issn.1674-8115.2016.07.023.
TIAN Wo-tu, LIU Xiao-li, CAO Li. Progresses of studies on genetics and clinical characteristics of paroxysmal nonkinesigenic dyskinesia[J]. , doi: 10.3969/j.issn.1674-8115.2016.07.023.
0 / / 推荐
导出引用管理器 EndNote|Ris|BibTeX
链接本文: https://xuebao.shsmu.edu.cn/CN/10.3969/j.issn.1674-8115.2016.07.023
https://xuebao.shsmu.edu.cn/CN/Y2016/V36/I07/1075
