摘要发作性运动诱发性运动障碍(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EKD1,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.

abstractsParoxysmal kinesigenic choreoathetosis/dyskinesias(PKC/PKD)is one ofthe most common types of praoxysmal dyskinesia.It is characterized by recurrent episodic dystonia and/or choreoathetotic attacks triggered by sud-den voluntary movement.Some patients have a history of febrile infantile convulsion.PKD commonly occurs sporadically or as and 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 channelopathy is suggested as a probable underlying etiology.Here.the re-cent advances of the genetic research on PKD will be reviewed.