PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
Eur J Neurol
; 21(1): 174-6, 2014.
Article
in En
| MEDLINE
| ID: mdl-23496026
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chorea
/
Membrane Proteins
/
Mutation
/
Nerve Tissue Proteins
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Eur J Neurol
Journal subject:
NEUROLOGIA
Year:
2014
Document type:
Article
Affiliation country:
China