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Reading: Paroxysmal Kinesigenic Dyskinesia

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Paroxysmal Kinesigenic Dyskinesia

Authors:

Martin Paucar ,

Department of Neurology, Karolinska University Hospital Huddinge, Stockholm; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, SE
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Helena Malmgren,

Department of Clinical Genetics, Karolinska University Hospital Solna, Stockholm; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, SE
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Per Svenningsson

Department of Neurology, Karolinska University Hospital Huddinge, Stockholm; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, SE
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Abstract

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene.

Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette’s syndrome.

Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.

How to Cite: Paucar M, Malmgren H, Svenningsson P. Paroxysmal Kinesigenic Dyskinesia. Tremor and Other Hyperkinetic Movements. 2017;7:529. DOI: http://doi.org/10.7916/D8R79N2F
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Published on 12 Dec 2017.
Peer Reviewed

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