title: Diffuse brain abnormalities in myotonic dystrophy type 1 detected by 3.0 T proton magnetic resonance spectroscopy.
abstract: Patients with myotonic dystrophy type 1 (DM1) (n = 14) were compared with healthy controls (n = 13) using 3.0 T proton magnetic resonance spectroscopy ((1)H-MRS) to investigate brain pathophysiology. (1)H-MRS imaging revealed reduced N-acetylaspartate to creatine ratio (NAA/Cr) in multiple brain regions (average 24%), suggesting diffuse brain abnormalities among patients with DM1. Single-voxel (1)H-MRS among patients with DM1 showed (1) reduced NAA in both the frontal cortex (23%) and frontal white matter (31%) and unaltered myo-inositol, suggesting neuronal abnormalities without significant gliosis; and (2) elevated glutamine in the frontal cortex (36%) and reduced glutamate in the frontal white matter (20%) among patients with DM1, suggesting abnormalities in the glutamatergic system in the brain of patients with DM1. We consider that these results reflect brain abnormalities that cannot be detected by neuropathological assessment in patients with DM1.
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Takado
authors.forename: Kenshi
authors.initials: K
authors.lastname: Terajima
authors.forename: Masaki
authors.initials: M
authors.lastname: Ohkubo
authors.forename: Kouichirou
authors.initials: K
authors.lastname: Okamoto
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Shimohata
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
authors.forename: Hironaka
authors.initials: H
authors.lastname: Igarashi
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Nakada
mesh_terms: D000328:Adult; D001921:Brain / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000503:physiopathology*; D066244:Proton Magnetic Resonance Spectroscopy / Q000379:methods*