title: Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1.
abstract: To evaluate cerebral metabolism and intergroup differences in closely matched patients with myotonic dystrophy type 2 (DM2, n = 15) and type 1 (DM1, n = 14), we performed (1)H magnetic resonance spectroscopic (MRS) analyses of the occipital and temporoparietal cortical regions as well as of subcortical frontal white matter. Relative to healthy subjects, the concentration of N-acetylaspartate was significantly reduced in all tested brain regions in both disease groups. In the DM1 patients we also observed a concomitant depletion of creatine and choline levels, particularly in the frontal white matter. A discriminant analysis based on the (1)H-MRS data distinguished between the DM2, DM1, and control groups with an overall accuracy of 88%. (1)H-MRS indicates that neurochemical alterations involving gray and white matter occur in patients with DM2 and DM1. Although structural abnormalities (cerebral atrophy, white matter lesions) are similar in DM2 and DM1, changes in cerebral metabolites can differentiate these disease groups, suggesting that the diseases differ in their neurocellular pathology.
authors.affiliation: Department of Neurology II, Otto-von-Guericke-Universität Magdeburg, Leipziger Str. 44, D-39120 Magdeburg, Germany. stefan.vielhaber@medizin.uni-magdeburg.de
authors.forename: Stefan
authors.initials: S
authors.lastname: Vielhaber
authors.forename: Sibylle
authors.initials: S
authors.lastname: Jakubiczka
authors.forename: Charly
authors.initials: C
authors.lastname: Gaul
authors.forename: Mircea Ariel
authors.initials: MA
authors.lastname: Schoenfeld
authors.forename: Grazyna
authors.initials: G
authors.lastname: Debska-Vielhaber
authors.forename: Stefan
authors.initials: S
authors.lastname: Zierz
authors.forename: Hans-Jochen
authors.initials: HJ
authors.lastname: Heinze
authors.forename: Heiko G
authors.initials: HG
authors.lastname: Niessen
authors.forename: Jörn
authors.initials: J
authors.lastname: Kaufmann
mesh_terms: D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001923:Brain Chemistry / Q000502:physiology*; D002540:Cerebral Cortex / Q000737:chemistry / Q000378:metabolism; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000145:classification / Q000378:metabolism* / Q000523:psychology; D009483:Neuropsychological Tests; D011569:Psychiatric Status Rating Scales; D012016:Reference Values
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline