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PRRT2 mutation in Korean patients with paroxysmal kinesigenic dyskinesia: A clinico-genetic analysis

Title
PRRT2 mutation in Korean patients with paroxysmal kinesigenic dyskinesia: A clinico-genetic analysis
Authors
Seong M.-W.Kim H.-J.Jeon B.S.Ehm G.Yang H.-J.Kim Y.E.Yun J.Y.Choi K.T.Cho S.I.Seo S.H.Park S.S.
Ewha Authors
윤지영
SCOPUS Author ID
윤지영scopusscopus
Issue Date
2014
Journal Title
Neurology Asia
ISSN
1823-6138JCR Link
Citation
vol. 19, no. 4, pp. 357 - 362
Publisher
ASEAN Neurological Association
Indexed
SCIE; SCOPUS WOS scopus
Abstract
Background & Objective: Recently, mutations in PRRT2 have been found to cause paroxysmal kinesigenic dyskinesia (PKD). However, only several reports have described the detailed clinical features of patients with the PRRT2 mutation compared to those without the mutation. Furthermore, 16p11.2 microdeletions including PRRT2 also have been reported in patients with PKD; however, it is unknown to what extent the PRRT2 deletion contributes to the development of PKD. Methods: We performed mutation screening in 29 Korean patients with PKD analyzing the sequence and gene dosage of PRRT2 and their clinical features.Results: Overall, genetic abnormalities in PRRT2 were identified in 7 patients (24%): 3 from the 6 familial cases (50%) and 4 from the 23 sporadic cases (17%). The previously reported c.649dupC and c.649delC were found in 5 and 1 patient, respectively, and a novel mutation c.323_324delCA was found in 1 patient. No patients had deletions involving the PRRT2 gene. Compared with the mutation-negative cases, the age of PKD onset was earlier in the mutation-positive cases. However, there were no differences in the other clinical features. A dystonia-only phenotype was reported only in the mutation-negative cases. Contrary to common belief that patients with PKD have an excellent response to carbamazepine, 3 mutation-positive patients taking carbamazepine reported only a partial response.Conclusions: PRRT2 is a common causative gene for Korean patients with PKD. Our results show that the incomplete response to carbamazepine does not exclude the PRRT2 mutation.
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의료원 > 의료원 > Journal papers
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