Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy

Hashimoto, Toshiaki; Tayama, Masanobu; Yoshimoto, Tsutomu; Miyazaki, Masahito; Harada, Masafumi; Miyoshi, Hirokazu; Tanouchi, Miki; Kuroda, Yasuhiro

doi:10.1016/0887-8994(95)00046-i

Cited by 17 publications

(13 citation statements)

References 23 publications

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“…Similar findings are reported in adults with less frequency [84]. MR spectroscopy shows lower N-acetyl aspartate/ choline and creatine ratios compared to normal controls [85].…”

Section: Neuroimaging and Central Nervous System Pathologysupporting

confidence: 76%

Congenital Myotonic Dystrophy

Campbell¹

2012

J Neurol Neurophysiol

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“…Similar findings are reported in adults with less frequency [84]. MR spectroscopy shows lower N-acetyl aspartate/ choline and creatine ratios compared to normal controls [85].…”

Section: Neuroimaging and Central Nervous System Pathologysupporting

confidence: 76%

Congenital Myotonic Dystrophy

Campbell¹

2012

J Neurol Neurophysiol

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“…Exactly the same voxel sizes were used for patients and controls: 4.8 cm 3 in the WF, 6 cm 3 in the GTP, and 4.8 cm 3 in the GMO. These three regions were selected because MR metabolic abnormalities 1,7,13 or neuropathological changes 19,28,31,39 have previously been reported there in cases of DM1. To avoid ambiguities related to the use of metabolite ratios, absolute metabolite concentrations (in mmol/L) were determined.…”

Section: Mrmentioning

confidence: 99%

“…18,20 Complementing the largely qualitative results of the structural MRI studies, previous in vivo 1 H magnetic resonance spectroscopy (MRS) studies showed a reduction of the N-acetylaspartate/creatine (NAA/Cr) ratio and N-acetylaspartate/choline (NAA/Cho) ratio in DM1, suggesting a decrease in NAA in those patients compared to controls. 1,13 However, no difference in the choline/creatine (Cho/Cr) ratio level was detected, so that an equivalent increase in both Cho and Cr levels could also explain these effects. 7 We therefore measured absolute concentrations of NAA, Cho, and Cr in DM1 patients.…”

mentioning

confidence: 94%

Brain ¹H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1

et al. 2006

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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.

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“…56,87 The most consistent finding in MRS studies was a decrease in N-acetylaspartate (NAA) (table 4). 8,17,35,62,88 Correlation of imaging with genetic and clinical parameters (95% CI = 63.8 to 76.5%); I 2 : 77%) of WMH across studies may be the result of study characteristics such as field strength (e.g. 1.5 T versus 3 T), imaging sequence (e.g.…”

Section: Structural Imaging Studiesmentioning

confidence: 99%

Brain imaging in myotonic dystrophy type 1

Okkersen

Monckton

et al. 2017

Neurology

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Objective:To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).Methods:We searched Embase (index period 1974–2016) and MEDLINE (index period 1946–2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.Results:In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64–77), compared with 6% (95% CI 3–12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.Conclusions:DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.

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Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy

Cited by 17 publications

References 23 publications

Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy

Brain ¹H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1

Brain imaging in myotonic dystrophy type 1

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Proton magnetic resonance spectroscopy of brain in congenital myotonic dystrophy

Cited by 17 publications

References 23 publications

Congenital Myotonic Dystrophy

Congenital Myotonic Dystrophy

Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1

Brain imaging in myotonic dystrophy type 1

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Brain ¹H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1