Clinico‐genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. (29th March 2013)

• Record Type: Journal Article
• 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.
• Is Part Of: European journal of neurology. Volume 21:Number 4(2014:Apr.)
• Page Start: 674
• Page End: 678
• Publication Date: 2013-03-29
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12142
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12142-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12142-sec-0001" sec-type="section"> <title>Background and purpose</title> <p>Mutations in the <italic>PRRT2</italic> gene have been identified in patients with paroxysmal kinesigenic dyskinesias (PKD); however, not many detailed clinico‐genetic correlations have been performed.</p> </sec> <sec id="ene12142-sec-0002" sec-type="section"> <title>Methods</title> <p>To investigate <italic>PRRT2</italic> mutations in a mixed Asian PKD population and perform clinico‐genetic correlations, we recruited patients between 2002 and 2011 and administered a standardized questionnaire.</p> </sec> <sec id="ene12142-sec-0003" sec-type="section"> <title>Results</title> <p>Amongst 29 unrelated patients with PKD recruited, five <italic>PRRT2</italic> 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 <italic>PRRT2</italic> mutations, although this did not reach statistical significance (<italic>P</italic>= 0.08). A younger age of onset, non‐Chinese, and the presence of premonitory sensations were significantly associated with <italic>PRRT2</italic> mutations in the univariate analysis. Multivariate logistic regression analysis demonstrated that age of onset [odds ratio (OR) = 0.59, <italic>P </italic>= 0.025] and premonitory sensation (OR = 10.67, <italic>P </italic>= 0.028) were independently associated with positive <italic>PRRT2</italic> mutation.</p> </sec> <sec id="ene12142-sec-0004" sec-type="section"> <title>Conclusions</title> <p> <italic>PRRT2</italic> mutations are common in patients with PKD, and a double <italic>PRRT2</italic> mutation is reported for the first time. <italic>PRRT2</italic> mutations are significantly associated with a younger age of onset and the presence of premonitory sensation in our population.</p> </sec> </abstract>