Article

BioMedicine

, 4:15

First online:

Open Access This content is freely available online to anyone, anywhere at any time.

Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation

  • I-Ching ChouAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University HospitalGraduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University
  • , Sheng-Shing LinAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University Hospital
  • , Wei-De LinAffiliated withDepartment of Medical Research, China Medical University and HospitalSchool of Post Baccalaureate Chinese Medicine, China Medical University
  • , Chung-Hsing WangAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University Hospital
  • , Yu-Tzu ChangAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University Hospital
  • , Fuu-Jen TsaiAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University HospitalDepartment of Medical Research, China Medical University and HospitalDepartment of Pediatrics, China Medical University Hospital Email author 
  • , Chang-Hai TsaiAffiliated withDepartment of Pediatrics, Children’s Hospital, China Medical University HospitalAsia University

Abstract

Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transmembrane protein 2 (PRRT2) were recently identified in patients with familial PKD. To extend these genetic reports, we studied a family with clinical manifestations of familial PKD responding well to low dose carbamazepine. Therapeutic dose ranged from 1.5 to 2.0 mg/ kg/day, below that in seizure control. One insertion mutation c.649_650insC (p.P217fsX7) was identified in three patients of the family. This study avers PRRT2’s high sensitivity for PKD phenotype. Identification of genes underlying pathogenesis will enhance diagnosis and treatment. Function of PRRT2 and its role in PKD warrant further investigation.

Keywords:

Carbamazepin Paroxysmal dyskinesia PRRT2 Mutation