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Neurology DOI:10.1212/WNL.0b013e318266fabf

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Publication TypeJournal Article
Year of Publication2012
AuthorsFriedman, J, Olvera, J, Silhavy, JL, Gabriel, SB, Gleeson, JG
JournalNeurology
Date Published2012/08/15
ISSN0028-3878
Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is an uncommon disorder characterized by brief episodes of involuntary dystonia or choreoathetosis triggered by sudden voluntary movement.(1) Recently, several groups identified mutations in patients with PKD in the proline-rich transmembrane protein 2 (PRRT2) gene.(2-7) We report a missense c.913G>A (p.Gly305Arg) change in PRRT2 in 4 siblings with PKD, 2 with infrequent symptoms. The association of a milder phenotype and reduced penetrance with this missense mutation suggests partial loss of function.

URLhttp://www.neurology.org/cgi/pmidlookup?view=long&pmid=22895590
DOI10.1212/WNL.0b013e318266fabf
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/22895590?dopt=Abstract