发作性运动诱发性运动障碍的遗传学研究进展

Recent advances of genetic research on paroxysmal kinesigenic dyskinesias

发作性运动诱发陆运动障碍（paroxysmal kinesigenic dyskinesias／choreoathetosis，PKD／PKC）又名发作性运动诱发性舞蹈手足徐动症，是发作性运动障碍中最常见的一种，以突然运动诱发的肌张力障碍和舞蹈手足徐动等不自主运动为特征。部分患者伴有良性无热性婴儿惊厥病史。PKD可以是散发性或家族性，呈常染色体显性遗传，有外显不完全。目前有多个不同种族的PKD家系的致病基因定位于16p12-q12区域，称为EKDl，另有一个定位于16q13-q22，称为EKD2位点，显示PKD有一定的遗传异质性。其病因及发病机制尚未阐明，目前多认为PKD是一种离子通道病。本文主要就家族性PKD致病基因的研究进展方面作一综述。

Paroxysmal kinesigenic choreoathetosis/dyskinesias （PKC/PKD） is one of the most common types of praoxysmal dyskinesia. It is characterized by recurrent episodic dystonia and/or choreoathetotic attacks triggered by sudden voluntary movement. Some patients have a history of febrile infantile convulsion. PKD commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. It has been linked to 16p12-q12 or 16q13-q22 loci in various families of different populations, which suggests a genetic heterogeneity. The exact etiology and pathogenesis of PKD await further elucidation, although ion chaunelopathy is suggested as a probable underlying etiology. Here, the recent advances of the genetic research on PKD will be reviewed.