You don't need to be signed in to read BMJ Group Blogs, but you can register here to receive updates about other BMJ Group products and services via our Group site.

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

30 Dec, 11 | by hqqu

Paroxysmal dyskinesias (PD) are a group of neurological disorders with episodes of involuntary movements that can be classified into three main categories: paroxysmal kinesigenic dyskinesia (PKD) , paroxysmal exercise induced dyskinesia (PED) and paroxysmal nonkinesigenic dyskinesia(PNKD). Interestingly, PDs may be variably associated with epilepsy. Description of familial infantile convulsions with paroxysmal choreoathetosis (ICCA) and its linkage to the same region with PKD gave the first genetic evidence for common mechanisms shared by PD and certain forms of epilepsy. Our findings show that PKD, ICCA and other PD-related phenotypes could be caused by mutation in the same PRRT2 gene, suggesting that these phenotypes are part of the same phenotypic spectrum. (By Dr. Qing Liu, http://jmg.bmj.com/content/early/2011/12/29/jmedgenet-2011-100653.abstract?papetoc )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics