AI Article Synopsis
- Paroxysmal Kinesigenic Dyskinesia (PKD) is a common genetic movement disorder triggered by sudden movements, with the PRRT2 gene identified as the primary cause.
- A study of 16 PKD patients and their families revealed mutations in 10 patients and 23 relatives, with a predominant mutation identified in most cases.
- The findings highlight that PKD symptoms onset around age 10, with varying attack frequency and duration, and underscore the distinct differences between mutation-positive and mutation-negative patients.
Article Abstract
Background: Paroxysmal Kinesigenic Dyskinesia (PKD, OMIM 128200) is the most common type of autosomal dominant Paroxysmal Dyskinesias characterized by attacks of dystonia and choreoathetosis triggered by sudden movements. Recently PRRT2, encoding proline-rich transmembrane protein 2, has been described as the most frequent causative gene for PKD.
Methods: We studied the incidence of PRRT2 mutations in a cohort of 16 PKD patients and their relatives for a total of 39 individuals.
Results: We identify mutations in 10/16 patients and 23 relatives. In 27/33 the mutation was the c.insC649 p.Arg217Profs*8. In 6 individuals from 3 families we found three new mutations: c.insT27 p.Ser9*, c.G967A p.Gly323Arg and c.delCA215_216 p.Thr72Argfs*62. Family history was positive in 9 patients. The mean age of onset was 10 years. Attacks lasted from a few seconds to 1 min and ranged from several per day to some per week, and were generalised in all patients. The main distinctive features of mutation-negative patients were the sporadic occurrence, the absence of association with epilepsy or EEG abnormalities and the poor response to Carbamazepine or other antiepileptic agents.
Conclusions: We report the first cohort of Italian patients mutated in PRRT2 and we confirm that this is the most frequent gene involved in PKD.
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| http://dx.doi.org/10.1016/j.ejpn.2015.08.006 | DOI Listing |
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