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.

Diffuse Brain Abnormalities in Myotonic Dystrophy Type 1 Detected by 3.0 T Proton Magnetic Resonance Spectroscopy

“…Furthermore, we used a short TE measurement for single-voxel 1 H-MRS, because long TE measurements cannot assess MI, which could be important for predicting gliosis [13,14]. Thus, the use of a 3.0 T system and optimization of the scanning parameters enabled more global MRSI measurements to be made than were made in previous studies [19,20,21,22]. …”

“…To the best of our knowledge, four other studies of patients with DM1 were assessed by 1 H-MRS [19,20,21,22] (table 3). As shown in table 3, the results were inconsistent, which might be attributed to differences in the experimental conditions.…”

“…Using 1 H-MRS, changes in the brain metabolite profile of patients with DM1 were observed in previous studies [19,20,21,22]; however, these results have been controversial, given the previous studies that suggested the involvement of synaptic dysfunction among patients with DM1 [23,24,25]. The controversies in previous 1 H-MRS studies might be attributed to the limited examined metabolites, as well as to the limited spatial information achieved only by single-voxel 1 H-MRS.…”

Cerebral involvement in myotonic dystrophies

“…Recent studies 127 suggest that, although structural abnormalities may occur in patients with DM1 and DM2, changes in cerebral metabolites can differentiate these disease groups. Further studies are needed to clarify whether this difference accounts for involvement of different neuropathological pathways in the two disorders.…”

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

“…Abnormalities in white matter tracts were reported throughout the brain (Harper, 2001; Minnerop et al, 2011; Wozniak et al, 2014; Baldanzi et al, 2016b) as well as dilated Virchow–Robin spaces (DVRS; Renard et al, 2016), reduced cerebral glucose metabolism and cerebral blood flow (Mielke et al, 1993; Annane et al, 1998; Meola et al, 1999, 2003; Romeo et al, 2010) and hypoperfusion (Meola et al, 2003; Romeo et al, 2010). Abnormalities in cerebral metabolites were found in DM1 patients suggesting global neuronal impairment or neuronal loss as well as abnormalities in the glutamatergic system within the frontal lobe of patients with DM1 (Vielhaber et al, 2006; Takado et al, 2015). DM2 patients share some of these features but to a lesser extent (Minnerop et al, 2011; Meola and Cardani, 2015).…”