Recent advances of genetic research on paroxysmal kinesigenic dyskinesias / 中华医学遗传学杂志

ABSTRACT

Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is one of the most common types of praoxysmal dyskinesia. It is characterized by recurrent episodic dystonia and/or choreoathetotic attacks triggered by sudden voluntary movement. Some patients have a history of febrile infantile convulsion. PKD commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. It has been linked to 16p12-q12 or 16q13-q22 loci in various families of different populations, which suggests a genetic heterogeneity. The exact etiology and pathogenesis of PKD await further elucidation, although ion channelopathy is suggested as a probable underlying etiology. Here, the recent advances of the genetic research on PKD will be reviewed.