title: Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia: a functional magnetic resonance imaging study.
abstract: BACKGROUND
  Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic postures or movements of the upper body. Functional imaging studies in other, mainly heterogeneous groups of dystonia do agree on dysfunction of the striato-pallido-thalamo-cortical circuit.
  
  
  OBJECTIVE
  To study cerebral activation patterns with functional magnetic resonance imaging in a genetically defined homogeneous group of patients with dystonia.
  
  
  METHODS
  Thirteen clinically affected SGCE mutation carriers and 11 control subjects were studied in a case-control study. Intervention A finger-tapping motor task was performed in a block design using 3.0-T magnetic resonance imaging.
  
  
  METHODS
  Blood oxygenation level-dependent signals were compared between groups.
  
  
  RESULTS
  In SGCE mutation carriers, we observed significant hyperresponsiveness in contralateral inferior parietal cortical areas, ipsilateral premotor and primary somatosensory cortex, and ipsilateral cerebellum during the motor task compared with healthy control subjects.
  
  
  CONCLUSIONS
  The cortical activation patterns in SGCE mutation carriers during this motor task point to a disorganized sensorimotor integration in this uniform group of patients with dystonia and are consistent with functional neuroimaging studies in other types of (hereditary) dystonia.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Beukers
authors.forename: Elisabeth M J
authors.initials: EM
authors.lastname: Foncke
authors.forename: Johan N
authors.initials: JN
authors.lastname: van der Meer
authors.forename: Aart J
authors.initials: AJ
authors.lastname: Nederveen
authors.forename: Michiel B
authors.initials: MB
authors.lastname: de Ruiter
authors.forename: Lo J
authors.initials: LJ
authors.lastname: Bour
authors.forename: Dick J
authors.initials: DJ
authors.lastname: Veltman
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology*; D001931:Brain Mapping; D016022:Case-Control Studies; D002531:Cerebellum / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D002560:Cerebrovascular Circulation / Q000235:genetics; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009415:Nerve Net / Q000378:metabolism / Q000503:physiopathology*; D010296:Parietal Lobe / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D049031:Sarcoglycans / Q000235:genetics; D013003:Somatosensory Cortex / Q000033:anatomy & histology / Q000378:metabolism / Q000503:physiopathology; D013647:Task Performance and Analysis; D055815:Young Adult
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans