Abstract
BackgroundParoxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.MethodsObservational study with a cohort of 14 PKD patients and genetic testing for PRRT2 mutations.ResultsIn a series of 14 PKD patients seen in our clinic at the National Hospital of Neurology, Queen Square, from 2012–2017, we noted tics in 11 patients (79%), which stand in stark contrast to the estimated lifetime prevalence of tics estimated to reach 1%.ConclusionsThe two reasons to point out this possible association are the clinical implications and the potential opportunity of a better understanding of shared pathophysiological mechanisms of neuronal hyperexcitability.
Highlights
Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder, characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.[1]
The estimated lifetime prevalence of tics has been estimated to reach 1%,9 which stands in stark contrast to the observation of tics in 79% of our PKD patients
This notion of a possible association is strengthened by previous single case reports,[3,4,5] describing the occurrence of tics in PKD or PKD-like patients
Summary
Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder, characterised by brief (seconds to minutes) attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.[1] Approximately half of the cases are due to autosomal-dominant PRRT2 mutations, the phenotypic spectrum of which has broadened to associate with infantile convulsions with paroxysmal choreoathetosis (ICCA), benign familial infantile epilepsy, and (hemiplegic) migraine and episodic ataxia.[2] Apart from rare case reports, an association with tics has not been noted so far.[3,4,5]. Tics can be associated with different movement disorders, including dystonia.[6] Here, we describe the association of tics with PKD as observed in a cohort of PKD patients
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