Recent advances of genetic research on paroxysmal kinesigenic dyskinesias / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 410-413, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-308052
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Chromosome Mapping
/
Dyskinesias
/
Genetic Research
/
Genetics
/
Movement Disorders
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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