PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

Eur J Neurol. 2014;21(1):174-6. doi: 10.1111/ene.12122. Epub 2013 Mar 16.


Background and purpose: Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown.

Methods: Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study.

Results: The mean onset age of the patients was 12.50 ± 2.70 years. Sixteen patients (48.48%) had sensory aura before their attacks. In total, 66.67% of the patients were running when the attacks occurred. c.649_650insC (p.P217fsX7), the most commonly reported insertion mutation, was identified in nine patients (27.27%).

Conclusions: Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.

Keywords: c.649_650insC; mutation; paroxysmal kinesigenic dyskinesia; proline-rich transmembrane protein 2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • China
  • Chorea / genetics*
  • DNA Mutational Analysis
  • Dystonia
  • Female
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Young Adult


  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human

Supplementary concepts

  • Familial paroxysmal dystonia