Y. P. C. and W.S. contributed equally to this study.
PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China
Article first published online: 16 MAR 2013
© 2013 The Author(s) European Journal of Neurology © 2013 EFNS
European Journal of Neurology
Volume 21, Issue 1, pages 174–176, January 2014
How to Cite
Chen, Y. P., Song, W., Yang, J., Zheng, Z.-Z., Huang, R., Chen, K., Zhao, B., Chen, X. P., Burgunder, J.-M. and Shang, H.-F. (2014), PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China. European Journal of Neurology, 21: 174–176. doi: 10.1111/ene.12122
- Issue published online: 10 DEC 2013
- Article first published online: 16 MAR 2013
- Manuscript Accepted: 30 JAN 2013
- Manuscript Received: 26 NOV 2012
- National Science Fund of China. Grant Number: 30973149
- Science and Technology Bureau Fund of Sichuan Province. Grant Number: 2010SZ0069
- paroxysmal kinesigenic dyskinesia;
- proline-rich transmembrane protein 2
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.
Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study.
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%).
Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.