目的：探讨发作性运动诱发性肌张力障碍（PKD）合并中枢神经脱髓鞘疾病的临床特点及基因诊断。 方法：总结我院报道的伴中枢神经脱髓鞘的PKD 1例，并结合文献进行回顾性分析。结果：本例患者表现 为阵发性不自主运动，头部影像学检查提示有中枢神经系统脱髓鞘表现，基因检查未发现PRRT2致病基 因。检索既往报道的PKD患者计56例，将所有符合条件的病例分为原发性PKD和继发性PKD。分析发现 原发性PKD发病年龄早、发作时间短、一半患者发作时有先兆症状，抗癫痫药物治疗效果不理想；继发性 PKD发病年龄晚、发作时间较长、发作频率高、较少患者有先兆症状、激素和（或）抗癫痫药物明显有效。结 论：继发性PKD常有明确病因如多发性硬化，且抗癫痫治疗有效。因此，基因诊断和病因排查有利于更精 准判断和治疗疾病，具有临床指导意义。

To investigate the clinical characteristics and gene diagnosis of paroxysmal kinesigenic dystonia (PKD) companied with central nervous demyelinating disease. Methods: A case of PKD with demyelination of central nervous system was reported in our hospital, and the literature was analyzed retrospectively. Results: The patient presented with paroxysmal involuntary movement. Head imaging showed demyelination of the central nervous system, and no PRRT2 pathogenic gene was found in the genetic examination. We collected data of 56 cases of PKD from the Pubmed. All the patients were divided into primary PKD and secondary PKD. Among them, the onset age of primary PKD was early and the duration was shorter. Half of the primary PKD patients had premonitory symptoms when they had seizures, so the drug treatment of epilepsy was not ideal. The onset age of secondary PKD was late, the duration was longer, the seizure frequency was high, and few patients have the premonitory symptoms. It was effective to treat secondary PKD with hormone and/or antiepileptic drugs. Conclusion: The common causes of secondary PKD include multiple sclerosis. Anti-epilepsy treatment is effective. Gene diagnosis and etiological investigation are helpful to accurately diagnose and guide clinical treatment.