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J Neurol Sci. 2014 May 15;340(1-2):91-3. doi: 10.1016/j.jns.2014.02.034. Epub 2014 Mar 3.

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

Author information

1
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, People's Republic of China.
2
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, People's Republic of China. Electronic address: xuyuming@zzu.edu.cn.

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.

KEYWORDS:

Carbamazepine; Drug response; Genotype; PRRT2; Paroxysmal kinesigenic dyskinesia; Phenotype

PMID:
24661410
DOI:
10.1016/j.jns.2014.02.034
[Indexed for MEDLINE]
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