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Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.

ABSTRACT: Background:Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population. Case report:In a patient who reported to clinic with side effects of carbamazepine, PRRT2 gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed PRRT2-associated PKD in Africa. Discussion:Reporting genetic confirmation of an unusual movement disorder from an equally unusual location shows the wide geographical distribution of PRRT2-associated disease. It also illustrates recognizability of this treatable disorder where the easiest accessible diagnostic tool is neurological history and examination.

SUBMITTER: Dekker MCJ

PROVIDER: S-EPMC6982423 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.

Dekker Marieke C J MCJ Chengo Rose R Kumburu Happiness H HH Kamsteeg Erik-Jan EJ Hamel Ben C BC

Tremor and other hyperkinetic movements (New York, N.Y.) 20190101

<h4>Background</h4>Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder, with an excellent response to carbamazepine treatment. It has been described in various populations, but not yet in an African population.<h4>Case report</h4>In a patient who reported to clinic with side effects of carbamazepine, <i>PRRT2</i> gene screening was performed based on a clinical history compatible with PKD. A common PRRT2 mutation was identified in this patient, hereby the first genetically confirmed P ...[more]

PMID: 32002278

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