Ontology highlight
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 |
REPOSITORIES: biostudies-literature