Paroxysmal Kinesigenic Dyskinesia

<p><strong>Background</strong>:&nbsp;Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong&...

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Bibliographic Details
Main Authors: Martin Paucar, Helena Malmgren, Per Svenningsson
Format: Article
Language:English
Published: Ubiquity Press 2017-12-01
Series:Tremor and Other Hyperkinetic Movements
Online Access:https://tremorjournal.org/index.php/tremor/article/view/529
Description
Summary:<p><strong>Background</strong>:&nbsp;Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong>:&nbsp;In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette&rsquo;s syndrome.</p><p><strong>Educational Value</strong>:&nbsp;Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.</p>
ISSN:2160-8288