Clinical Manifestations in Paroxysmal Kinesigenic Dyskinesia Patients with Proline-Rich Transmembrane Protein 2 Gene Mutation
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초록
Background and Purpose Given the diverse phenotypes including combined non-dyskineticsymptoms in patients harboring mutations of the gene encoding proline-rich transmembraneprotein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKDpatients with PRRT2 mutations. Methods Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing wasperformed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation. Results Among the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadicpatients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases(10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, whichis the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC)were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger atsymptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups. Conclusions This is the first study of PRRT2 mutations in Korea. The presence of a PRRT2mutation was more strongly related to familial PKD, and was clinically related with earlier ageof onset and common non-dyskinetic symptoms in PKD patients.
Abstract
Background and Purpose Given the diverse phenotypes including combined non-dyskineticsymptoms in patients harboring mutations of the gene encoding proline-rich transmembraneprotein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKDpatients with PRRT2 mutations. Methods Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing wasperformed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation. Results Among the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadicpatients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases(10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, whichis the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC)were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger atsymptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups. Conclusions This is the first study of PRRT2 mutations in Korea. The presence of a PRRT2mutation was more strongly related to familial PKD, and was clinically related with earlier ageof onset and common non-dyskinetic symptoms in PKD patients.
참고문헌 (18)
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