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Title: Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations
Authors: Tan L.C.S. 
Methawasin K.
Teng E.W.L.
Ng A.R.J.
Seah S.H.
Au W.L. 
Liu J.J. 
Foo J.N.
Zhao Y.
Tan E.K. 
Keywords: Paroxysmal kinesigenic dyskinesia
Issue Date: 2014
Citation: Tan L.C.S., Methawasin K., Teng E.W.L., Ng A.R.J., Seah S.H., Au W.L., Liu J.J., Foo J.N., Zhao Y., Tan E.K. (2014). Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. European Journal of Neurology 21 (4) : 674-678. ScholarBank@NUS Repository.
Abstract: Background and purpose: Mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesias (PKD); however, not many detailed clinico-genetic correlations have been performed. Methods: To investigate PRRT2 mutations in a mixed Asian PKD population and perform clinico-genetic correlations, we recruited patients between 2002 and 2011 and administered a standardized questionnaire. Results: Amongst 29 unrelated patients with PKD recruited, five PRRT2 mutations were present in 15 patients. Three mutations (c.649dupC, c.649delC, c.649C>T) were previous reported, while three were novel mutations (c.604delT; c.609_611delACC/p.Ser202Hisfs; c.697_698delAG/p.Ser233Trp fsX5). Clinico-genetic correlations revealed that a history of seizures was more common in patients with PRRT2 mutations, although this did not reach statistical significance (P= 0.08). A younger age of onset, non-Chinese, and the presence of premonitory sensations were significantly associated with PRRT2 mutations in the univariate analysis. Multivariate logistic regression analysis demonstrated that age of onset [odds ratio (OR)=0.59, P=0.025] and premonitory sensation (OR=10.67, P=0.028) were independently associated with positive PRRT2 mutation. Conclusions: PRRT2 mutations are common in patients with PKD, and a double PRRT2 mutation is reported for the first time. PRRT2 mutations are significantly associated with a younger age of onset and the presence of premonitory sensation in our population. � 2013 The Author.
Source Title: European Journal of Neurology
ISSN: 13515101
DOI: 10.1111/ene.12142
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