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
Progresses of studies on genetics and clinical characteristics of paroxysmal nonkinesigenic dyskinesia

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。
： 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