Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations
Article first published online: 29 MAR 2013
© 2013 The Author(s) European Journal of Neurology © 2013 EFNS
European Journal of Neurology
Volume 21, Issue 4, pages 674–678, April 2014
How to Cite
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. and Tan, E. K. (2014), Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations. European Journal of Neurology, 21: 674–678. doi: 10.1111/ene.12142
- Issue published online: 13 MAR 2014
- Article first published online: 29 MAR 2013
- Manuscript Accepted: 14 FEB 2013
- Manuscript Received: 24 AUG 2012
- Singapore Millennium Foundation
- paroxysmal kinesigenic dyskinesia;
- PRRT2 ;
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.
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.
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.
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.