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ABSTRACT: Background
Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.Methods
Observational study with a cohort of 14 PKD patients and genetic testing for PRRT2 mutations.Results
In 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%.Conclusions
The 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.
SUBMITTER: Balint B
PROVIDER: S-EPMC6016019 | biostudies-literature | 2018 May-Jun
REPOSITORIES: biostudies-literature
Balint Bettina B Wiethoff Sarah S Martino Davide D Del Gamba Claudia C Latorre Anna A Ganos Christos C Houlden Henry H Bhatia Kailash P KP
Movement disorders clinical practice 20180417 3
<h4>Background</h4>Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief attacks of chorea, dystonia, or mixed forms precipitated by sudden movement.<h4>Methods</h4>Observational study with a cohort of 14 PKD patients and genetic testing for <i>PRRT2</i> mutations.<h4>Results</h4>In 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 ...[more]