RESUMO
Paroxysmal kinesigenic dyskinesia (PKD) is the most frequently described subtype of paroxysmal dyskinesias.The precipitating factor is usually sudden movement or startle.Clinically,PKD cases suffer involuntary movements including unilateral or bilateral chorea,athetosis,dystonia or ballismus,with preserved consciousness.Family history is commonly noted in idiopathic PKD,but sporadic cases are also reported.Familial PKD is inherited in an autosomal dominant fashion with incomplete penetrance.To date,2 loci 16p11-q12 and 16q13-q22 have been mapped to PKD,although a 3rd locus is also suspected.PRRT2,which was located in 16p12.1,was recently identified as causative gene of PKD.However,culprit genes in the other 2 loci remain to be investigated.The potential mechanism of PKD remains largely unclear and the role of mutant PRRT2 in the pathogenesis of PKD is still unknown.In this review,the recent advances of PKD were summarized and hypothesis regarding the mechanisms of PKD was put up,which may make significant contributions to the diagnosis and treatment of PKD.