[Recent advances of genetic research on paroxysmal kinesigenic dyskinesias].
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.
Li
Xun-hua
XH
Department of Neurology, the First Affiliated Hospital, Sun Yat-Sen University, Guangdong, 510089 People's Republic of China. ywzhong@hotmail.com.
Chen
Su-qin
SQ
Wang
Yi-ming
YM
D002874:Chromosome Mapping; D020820:Dyskinesias / Q000235:genetics*; D036281:Genetic Research; D006801:Humans; D009069:Movement Disorders / Q000235:genetics; D010375:Pedigree