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发作性运动诱发性运动障碍(PKD)是一种罕见的发作性运动障碍，人群发病率约为1/150 000。PKD与遗传高度相关，除n PRRT2基因外，n SCN8A、n KCNA1、n CHRNA4、n DEPDC5、n PNKD、n SLC2A1、n KCNMA1、n ADCY5等基因突变也可以导致PKD表型。功能影像学研究发现PKD患者存在皮质、基底节、丘脑的细微结构或功能异常。本文现围绕PKD的遗传学和功能影像学研究新进展进行综述，以期有助于进一步了解PKD的潜在病理生理学机制。n “,”Paroxysmal kinesigenic dyskinesia (PKD) is a rare type of paroxysmal dyskinesia with a population estimated incidence of 1/150, 000. PKD is likely correlated with genetics. Genetic studies have shown that, in addition to n PRRT2 gene, mutations in n SCN8A, n KCNA1, n CHRNA4, DEPDC5, n PNKD, n SLC2A1, n KCNMA1, n ADCY5 and other genes could also lead to PKD phenotypes. Functional imaging studies have found that PKD patients have subtle structural or functional abnormalities in the cortex, basal ganglia and thalamus. This paper reviews the recent advances in genetics and functional imaging of PKD, aiming at helping us to further understand the underlying pathophysiological mechanisms of PKD.n