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Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.

Abstract：

BACKGROUND:Recently, PRRT2 gene mutations have been identified as a causative factor of paroxysmal kinesigenic dyskinesia (PKD). However, evidence is still lacking with respect to the genotype to phenotype correlation in PKD patients. METHODS:We recruited a cohort of PKD patients with or without PRRT2 mutations for the study, and followed them for 6 months to observe the response to carbamazepine treatment. RESULTS:Thirty-four participants were included in this study; 16 patients were positive for a hot-spot p.R217Pfs 8 heterozygous PRRT2 gene mutation, while the other 18 patients were negative for PRRT2 gene mutations. PRRT2 mutations were found to be associated with a younger age of onset, bilateral presence and a higher frequency of attacks. Furthermore, the follow-up study revealed that p.R217Pfs 8-positive patients showed dramatic improvement with complete abolition of dyskinetic episodes with carbamazepine treatment, while only 7 of the 18 patients without PRRT2 mutations showed a response to the antiepileptic drug. CONCLUSIONS:Our study indicated that positivity for PRRT2 mutation is a predictor of younger age of onset and more frequent of attacks in PKD patients. Interestingly, the presence of PRRT2 mutations also predicted a good response to carbamazepine therapy, especially at low dose. Therefore, genetic testing shows potential clinical significance for guiding the choice of medication for individual PKD cases.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Mao CY,Shi CH,Song B,Wu J,Ji Y,Qin J,Li YS,Wang JJ,Shang DD,Sun SL,Xu YM

doi

10.1016/j.jns.2014.02.034

subject

Has Abstract

pub_date

2014-05-15 00:00:00

pages

91-3

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(14)00139-7

journal_volume

340

pub_type

杂志文章

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