Abstract
<strong>Background:</strong> Four cases of paroxysmal kinesigenic dyskinesia (PKD) have been reported in individuals with proximal 16p11.2 microdeletions that include <em>PRRT2</em>. <strong>Case Report:</strong> We describe a fifth patient with PKD, features of Asperger’s syndrome, and mild language delays. Sanger sequencing of the <em>PRRT2</em> gene did not identify any mutations implicated in PKD. However, microarray-based comparative genomic hybridization (aCGH) detected a 533.9-kb deletion on chromosome 16, encompassing over 20 genes and transcripts. <strong>Discussion:</strong> This case underscores the importance of aCGH testing for individuals with PKD who do not have <em>PRRT2</em> mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.
Highlights
Paroxysmal kinesigenic dyskinesia (PKD) is an episodic, brief movement disorder triggered by sudden movements
Multiple mutations in PRRT2 have been reported among patients with paroxysmal kinesigenic dyskinesia (PKD) and other related phenotypes including benign familial infantile epilepsy (BFIE) and infantile convulsions with choreoathetosis (ICCA) syndrome.[3]
We report a fifth patient with PKD and a proximal 16p11.2 microdeletion, review the related PKD cases reported to date, and propose phenotypic clues to facilitate a diagnosis of PKD in the context of the 16p11.2 microdeletion syndrome
Summary
Yang[2], Jennifer Reiner[2], Hui Mei[2], Stuart A. Frucht[1 1] Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA, 2 Department of Genetics and Genomic
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
