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.