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Clinico‐genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT 2 mutations
Author(s) -
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.
Publication year - 2014
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12142
Subject(s) - medicine , paroxysmal dyskinesia , population , univariate analysis , odds ratio , pediatrics , gastroenterology , oncology , multivariate analysis , dyskinesia , disease , parkinson's disease , environmental health
Background and purpose Mutations in the PRRT 2 gene have been identified in patients with paroxysmal kinesigenic dyskinesias ( PKD ); however, not many detailed clinico‐genetic correlations have been performed. Methods To investigate PRRT 2 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 PRRT 2 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_611del ACC /p.Ser202Hisfs; c.697_698del AG /p.Ser233Trp fsX5). Clinico‐genetic correlations revealed that a history of seizures was more common in patients with PRRT 2 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 PRRT 2 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 PRRT 2 mutation. Conclusions PRRT 2 mutations are common in patients with PKD , and a double PRRT 2 mutation is reported for the first time. PRRT 2 mutations are significantly associated with a younger age of onset and the presence of premonitory sensation in our population.