title: Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia.
abstract: We investigated a five-year-old girl suffering from genetically confirmed, action-induced myoclonus-dystonia (M-D) with functional magnetic resonance imaging (MRI). We compared the activation pattern by movements of her right hand as if drawing a picture, which elicited M-D, with simple snapping movements (without overt M-D). The drawing and snapping conditions resulted in activation of a motor network including the motor cortex, the putamen, and the cerebellar hemispheres. The direct comparison of the drawing condition with snapping as control revealed specific activations within the thalamus and the dentate nucleus. An age matched healthy control did not show significant activation within the thalamus or dentate nucleus.
authors.affiliation: Department of Neurology, University Hospital of Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. matthias.nitschke@neuro.uni-luebeck.de
authors.forename: M F
authors.initials: MF
authors.lastname: Nitschke
authors.forename: C
authors.initials: C
authors.lastname: Erdmann
authors.forename: P
authors.initials: P
authors.lastname: Trillenberg
authors.forename: A
authors.initials: A
authors.lastname: Sprenger
authors.forename: N
authors.initials: N
authors.lastname: Kock
authors.forename: J
authors.initials: J
authors.lastname: Sperner
authors.forename: C
authors.initials: C
authors.lastname: Klein
mesh_terms: D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002675:Child, Preschool; D004421:Dystonia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006225:Hand; D006801:Humans; D008279:Magnetic Resonance Imaging; D009068:Movement / Q000502:physiology*; D009207:Myoclonus / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*