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.
Highlights
Paroxysmal kinesigenic dyskinesia (PKD, OMIM 128000) is a rare paroxysmal movement disorder, often misdiagnosed as epilepsy and characterized by recurrent, brief attacks of dyskinesia triggered by sudden voluntary movement
We report a family with clinical manifestations of familial PKD responding to low-dose CBZ
A twelve-year-old male had two-year history of paroxysmal movement disorder induced by sudden movement or brief exercise; birth, delivery, and development were unremarkable, without significant medical history
Summary
Paroxysmal kinesigenic dyskinesia (PKD, OMIM 128000) is a rare paroxysmal movement disorder, often misdiagnosed as epilepsy and characterized by recurrent, brief attacks of dyskinesia triggered by sudden voluntary movement. Sudden movement after a prolonged rest period is the most common precipitating factor, duration of attack usually brief, lasting seconds up to five minutes [2,3,4,5]. They can occur many times daily, but frequency and severity of attack seem to decrease with age. Mutations of proline-rich transmembrane protein 2 (PRRT2) have recently been identified in cases of familial PKD [11,12,13,14,15]. One insertion mutation c.649_650insC (p.P217fsX7) was identified in three patients of the family
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