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

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

Author information

1
Department of Neurology, State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, China.

Abstract

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

PMID:
23496026
DOI:
10.1111/ene.12122
[Indexed for MEDLINE]
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