Paroxysmal kinesigenic dyskinesia–like phenotype in multiple sclerosis

Abstract

In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral choreoathetosis and usually represents an autosomal dominant inherited disorder caused by PRRT2 gene mutations. As in the present case, a PKD-like phenotype may be associated with MS relapses in presumably genetic negative cases.

Keywords

Multiple sclerosis MRI movement disorder basal ganglia

Get full access to this article

View all access options for this article.

References

Heron

Dibbens

LM.

Role of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotropy. J Med Genet 2013; 50: 133–139.

Unterberger

Trinka

Diagnosis and treatment of paroxysmal dyskinesias revisited. Ther Adv Neurol Disord 2008; 1(2): 67–74.

Chen

G-H.

Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. Exp Ther Med 2015; 9: 909–912.

Ebrahimi-Fakhari

Saffari

Westenberger

et al . The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain 2015; 138: 3476–3495.

Mehanna

Jankovic

Movement disorders in multiple sclerosis and other demyelinating diseases. J Neurol Sci 2013; 328: 1–8.

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB