title: Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia.
abstract: BACKGROUND
  Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic postures or movements. Morphometric studies have been performed in other, mainly heterogenous, types of dystonia producing conflicting results. However, all these studies agree on abnormalities in sensorimotor structures, mainly in the basal ganglia. We aimed to study gray matter (GM) volumes in sensorimotor brain structures with magnetic resonance imaging (MRI) in a genetically homogeneous form of dystonia, M-D.
  
  
  METHODS
  Twenty-five clinically affected DYT11 mutation carriers (MC) and 25 matched control subjects were studied using T1-weighted 3D anatomical images of the entire brain, obtained with a 3.0 Tesla MRI. MC were clinically scored using the Burke Fahn Marsden dsytonia rating scale (BFMDRS) and the unified myoclonus rating scale (UMRS). GM volumes in sensorimotor cortices and basal ganglia of patients and controls were compared, and multiple regression analyses were used to correlate the GM volumes of patients with the clinical rating scales BFMDRS and UMRS.
  
  
  RESULTS
  No significant differences were found between groups, but dystonia severity in MC was strongly correlated with increased GM volume in bilateral putamina.
  
  
  CONCLUSIONS
  This study provides further evidence for the involvement of putamina as important motor structures in the pathophysiology of (myoclonus-) dystonia. Changes in these structures are associated with the severity of dystonia.
authors.affiliation: Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Beukers
authors.forename: J N
authors.initials: JN
authors.lastname: van der Meer
authors.forename: S M
authors.initials: SM
authors.lastname: van der Salm
authors.forename: E M
authors.initials: EM
authors.lastname: Foncke
authors.forename: D J
authors.initials: DJ
authors.lastname: Veltman
authors.forename: M A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D007839:Functional Laterality / Q000235:genetics / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics; D009154:Mutation; D011699:Putamen / Q000473:pathology* / Q000503:physiopathology; D012720:Severity of Illness Index; D013003:Somatosensory Cortex / Q000473:pathology / Q000503:physiopathology; D055815:Young Adult
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human