Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in Late Onset Pompe Disease
Rehmann, R; Froeling, M; Rohm, M; Forsting, J; Kley, R A; Schmidt-Wilcke, T; Karabul, N; Meyer-Frießem, C H; Vollert, J; Tegenthoff, M; Vorgerd, M; Schlaffke, L
(2020) Muscle & Nerve, volume 62, issue 4, pp. 541 - 549
(Article)
Abstract
MRI is a helpful tool for monitoring disease progression in late-onset Pompe disease (LOPD). Our study aimed to evaluate if muscle diffusion tensor imaging (mDTI) shows alterations in muscles of LOPD patients with <10% fat-fraction. We evaluated 6 thigh and 7 calf muscles (both legs) of 18 LOPD and 29
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healthy controls (HC) with muscle diffusion tensor imaging (mDTI), T1w, and mDixonquant sequences in a 3T MRI scanner. The quantitative mDTI-values axial diffusivity (λ 1), mean diffusivity (MD), radial diffusivity (RD), and fractional anisotropy (FA) as well as fat-fraction were analyzed. 6-Minute Walk Test (6-MWT) data were correlated to diffusion metrics. We found that mDTI showed significant differences between LOPD and HC in diffusion parameters (P <.05). Thigh muscles with <10% fat-fraction showed significant differences in MD, RD, and λ 1-3. MD positively correlated with 6-MWT (P =.06). To conclude, mDTI reveals diffusion restrictions in muscles of LOPD with and without fat-infiltration and reflects structural changes prior to fatty degeneration.
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Keywords: 6-Minute Walk Test, diffusion tensor imaging, glycogen storage disease type II, magnetic resonance imaging, tractography, skeletal, muscle, muscle, skeletal, Clinical Neurology, Physiology (medical), Cellular and Molecular Neuroscience, Physiology, Journal Article
ISSN: 0148-639X
Publisher: John Wiley and Sons Inc.
Note: Funding Information: This basic research study was funded by Sanofi‐Genzyme with a research grant (GZ‐15‐11496). Grant applicants were Robert Rehmann, Tobias Schmidt‐Wilcke, Matthias Vorgerd. We thank Philips Germany, especially Burkhard Maedler for continuous scientific support. Open access funding enabled and organized by Projekt DEAL. Publisher Copyright: © 2020 The Authors. Muscle & Nerve published by Wiley Periodicals LLC. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.
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