title: Grey and white matter loss along cerebral midline structures in myotonic dystrophy type 2.
abstract: Myotonic dystrophy type 2 (DM2) is an autosomal dominantly inherited multisystemic disorder and a common cause of muscular dystrophy in adults. Although neuromuscular symptoms predominate, there is clinical and imaging evidence of cerebral involvement. We used voxel-based morphometry (VBM) based on T1-weighted magnetic resonance images to investigate brain morphology in 13 DM2 patients in comparison to 13 sex- and age-matched controls. Further, we employed novel computational surface-based methods that specifically assess callosal thickness. We found grey and white matter loss along cerebral midline structures in our patient group. Grey matter reductions were present in brainstem and adjacent hypothalamic and thalamic regions, while white matter was mainly reduced in corpus callosum. The reduced callosal size was highly significant and independently confirmed by different methods. Our data provide first evidence for grey and white matter loss along brain midline structures in DM2 patients. The reduced size of the corpus callosum further extends the spectrum of white matter changes in DM2 and may represent the morphological substrate of neuropsychological abnormalities previously described in this disorder.
authors.affiliation: Department of Neurology, University Hospital of Bonn, Sigmund-Freud-Strasse 25, Bonn, Germany. m.minnerop@uni-bonn.de
authors.forename: Martina
authors.initials: M
authors.lastname: Minnerop
authors.forename: Eileen
authors.initials: E
authors.lastname: Luders
authors.forename: Karsten
authors.initials: K
authors.lastname: Specht
authors.forename: Jürgen
authors.initials: J
authors.lastname: Ruhlmann
authors.forename: Christiane
authors.initials: C
authors.lastname: Schneider-Gold
authors.forename: Rolf
authors.initials: R
authors.lastname: Schröder
authors.forename: Paul M
authors.initials: PM
authors.lastname: Thompson
authors.forename: Arthur W
authors.initials: AW
authors.lastname: Toga
authors.forename: Thomas
authors.initials: T
authors.lastname: Klockgether
authors.forename: Cornelia
authors.initials: C
authors.lastname: Kornblum
mesh_terms: D000328:Adult; D000368:Aged; D001933:Brain Stem / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D054022:Cerebrum / Q000473:pathology*; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D006801:Humans; D007031:Hypothalamus / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000145:classification / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009929:Organ Size; D013788:Thalamus / Q000473:pathology