title: 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.
authors.affiliation: Department of Neurology and Internal Medicine, Kantonsspital Olten, Olten, Switzerland.
authors.forename: Roxana
authors.initials: R
authors.lastname: Pop
authors.affiliation: Department of Neurology and Internal Medicine, Kantonsspital Olten, Olten, Switzerland.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kipfer
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology*; D020820:Dyskinesias / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D009103:Multiple Sclerosis / Q000150:complications*; D010641:Phenotype; D013256:Steroids / Q000494:pharmacology; D055815:Young Adult
chemical_list: D013256:Steroids
keywords: MRI; Multiple sclerosis; basal ganglia; movement disorder