title: Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness.
abstract: OBJECTIVE
  Central nervous system involvement is one important clinical aspect of myotonic dystrophy type 1 and 2 (DM1 and DM2). We assessed CNS involvement DM1 and DM2 by 3T MRI and correlated clinical and neuocognitive symptoms with brain volumetry and voxel-based morphometry (VBM).
  
  
  METHODS
  12 patients with juvenile or classical DM1 and 16 adult DM2 patients underwent 3T MRI, a thorough neurological and neuropsychological examination and scoring of depression and daytime sleepiness. Volumes of brain, ventricles, cerebellum, brainstem, cervical cord, lesion load and VBM results of the patient groups were compared to 33 matched healthy subjects.
  
  
  RESULTS
  Clinical symptoms were depression (more pronounced in DM2), excessive daytime sleepiness (more pronounced in DM1), reduced attention and flexibility of thinking, and deficits of short-term memory and visuo-spatial abilities in both patient groups. Both groups showed ventricular enlargement and supratentorial GM and WM atrophy, with prevalence for more GM atrophy and involvement of the motor system in DM1 and more WM reduction and affection of limbic structures in DM2. White matter was reduced in DM1 in the splenium of the corpus callosum and in left-hemispheric WM adjacent to the pre- and post-central gyrus. In DM2, the bilateral cingulate gyrus and subgyral medio-frontal and primary somato-sensory WM was affected. Significant structural-functional correlations of morphological MRI findings (global volumetry and VBM) with clinical findings were found for reduced flexibility of thinking and atrophy of the left secondary visual cortex in DM1 and of distinct subcortical brain structures in DM2. In DM2, depression was associated with brainstem atrophy, Daytime sleepiness correlated with volume decrease in the middle cerebellar peduncles, pons/midbrain and the right medio-frontal cortex.
  
  
  CONCLUSIONS
  GM and WM atrophy was significant in DM1 and DM2. Specific functional-structural associations related morphological changes to cognitive impairment, depression and daytime sleepiness, partly indicating involvement of complex neuronal networks.
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Schneider-Gold
authors.affiliation: Department of Radiology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Barabara
authors.initials: B
authors.lastname: Bellenberg
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Prehn
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Christos
authors.initials: C
authors.lastname: Krogias
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Ruth
authors.initials: R
authors.lastname: Schneider
authors.affiliation: Fraunhofer-MEVIS, Institute for Medical Image Computing, Bremen, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Klein
authors.affiliation: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Ralf
authors.initials: R
authors.lastname: Gold
authors.affiliation: Department of Radiology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Lukas
mesh_terms: D000328:Adult; D000368:Aged; D001284:Atrophy / Q000000981:diagnostic imaging / Q000503:physiopathology; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000503:physiopathology; D003072:Cognition Disorders / Q000000981:diagnostic imaging / Q000503:physiopathology; D003863:Depression / Q000000981:diagnostic imaging / Q000503:physiopathology; D005260:Female; D066128:Gray Matter / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D008297:Male; D008636:Mesencephalon / Q000000981:diagnostic imaging / Q000503:physiopathology; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000000981:diagnostic imaging / Q000503:physiopathology; D011859:Radiography; D012890:Sleep; D066127:White Matter / Q000000981:diagnostic imaging / Q000503:physiopathology