title: Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.
abstract: OBJECTIVE
  Mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesias (PKD); however, not many detailed clinico-genetic correlations have been performed.
  
  
  METHODS
  To investigate PRRT2 mutations in a mixed Asian PKD population and perform clinico-genetic correlations, we recruited patients between 2002 and 2011 and administered a standardized questionnaire.
  
  
  RESULTS
  Amongst 29 unrelated patients with PKD recruited, five PRRT2 mutations were present in 15 patients. Three mutations (c.649dupC, c.649delC, c.649C>T) were previous reported, while three were novel mutations (c.604delT; c.609_611delACC/p.Ser202Hisfs; c.697_698delAG/p.Ser233Trp fsX5). Clinico-genetic correlations revealed that a history of seizures was more common in patients with PRRT2 mutations, although this did not reach statistical significance (P= 0.08). A younger age of onset, non-Chinese, and the presence of premonitory sensations were significantly associated with PRRT2 mutations in the univariate analysis. Multivariate logistic regression analysis demonstrated that age of onset [odds ratio (OR) = 0.59, P = 0.025] and premonitory sensation (OR = 10.67, P = 0.028) were independently associated with positive PRRT2 mutation.
  
  
  CONCLUSIONS
  PRRT2 mutations are common in patients with PKD, and a double PRRT2 mutation is reported for the first time. PRRT2 mutations are significantly associated with a younger age of onset and the presence of premonitory sensation in our population.
authors.affiliation: Parkinson's Disease and Movement Disorders Centre, USA National Parkinson Foundation Centre of Excellence, National Neuroscience Institute, Singapore City, Singapore; Department of Neurology, National Neuroscience Institute, Singapore City, Singapore.
authors.forename: L C S
authors.initials: LC
authors.lastname: Tan
authors.forename: K
authors.initials: K
authors.lastname: Methawasin
authors.forename: E W L
authors.initials: EW
authors.lastname: Teng
authors.forename: A R J
authors.initials: AR
authors.lastname: Ng
authors.forename: S H
authors.initials: SH
authors.lastname: Seah
authors.forename: W L
authors.initials: WL
authors.lastname: Au
authors.forename: J J
authors.initials: JJ
authors.lastname: Liu
authors.forename: J N
authors.initials: JN
authors.lastname: Foo
authors.forename: Y
authors.initials: Y
authors.lastname: Zhao
authors.forename: E K
authors.initials: EK
authors.lastname: Tan
mesh_terms: D017668:Age of Onset; D044466:Asian People; D002648:Child; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D004421:Dystonia; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012044:Regression Analysis; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: PRRT2; paroxysmal kinesigenic dyskinesia; seizures