Abstract: Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. Familial PKD are mostly autosomal dominant inherited and proline-rich transmembrare protein 2 (PRRT2) gene has been identified as the causative gene for PKD. So far 56 mutations have been documented and most of them are nonsense ones. No obvious genotype-phenotype correlation has been observed and the function of PRRT2 is still unclear, but the interaction between PRRT2 and synaptosomal-associated protein 25 (SNAP25) will shed the light on the research of PKD mechanism.

Key words: Movement disorders, Genetics, Review

摘要： 发作性动作诱发性运动障碍是一组由突然动作所诱发的非随意运动障碍性疾病，具有高度临床及遗传异质性。家族性发作性动作诱发性运动障碍大多呈常染色体显性遗传，PRRT2 基因被证实为其致病基因。迄今为止，共明确56 种PRRT2 基因突变类型，其中大部分为无义突变，但无明确的基因型和表型关联性。有关PRRT2 蛋白功能尚未阐明，但其与突触相关蛋白25 的相互作用可能为进一步研究发作性动作诱发性运动障碍的发病机制带来提示。

关键词: 运动障碍, 遗传学, 综述