[Recent advances of genetic research on paroxysmal kinesigenic dyskinesias].

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.

• Authors: Xun-hua Li, Su-qin Chen, Yi-ming Wang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 25 Issue 4 Pg. 410-3 (Aug 2008) ISSN: 1003-9406 [Print] China
• PMID: 18683138 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Chromosome Mapping
• Dyskinesias (genetics)
• Genetic Research
• Humans
• Movement Disorders (genetics)
• Pedigree