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

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.