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Lookup NU author(s): Dr Nathalie Doorenweerd, Dr Kieren Hollingsworth, Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 The Author(s). NMR in Biomedicine published by John Wiley & Sons Ltd.Duchenne muscular dystrophy (DMD) is a progressive X-linked neuromuscular disorder caused by the absence of functional dystrophin protein. In addition to muscle, dystrophin is expressed in the brain in both neurons and glial cells. Previous studies have shown altered white matter microstructure in patients with DMD using diffusion tensor imaging (DTI). However, DTI measures the diffusion properties of water, a ubiquitous molecule, making it difficult to unravel the underlying pathology. Diffusion-weighted spectroscopy (DWS) is a complementary technique which measures diffusion properties of cell-specific intracellular metabolites. Here we performed both DWS and DTI measurements to disentangle intra- and extracellular contributions to white matter changes in patients with DMD. Scans were conducted in patients with DMD (15.5 ± 4.6 y/o) and age- and sex-matched healthy controls (16.3 ± 3.3 y/o). DWS measurements were obtained in a volume of interest (VOI) positioned in the left parietal white matter. Apparent diffusion coefficients (ADCs) were calculated for total N-acetylaspartate (tNAA), choline compounds (tCho), and total creatine (tCr). The tNAA/tCr and tCho/tCr ratios were calculated from the non-diffusion-weighted spectrum. Mean diffusivity (MD), radial diffusivity (RD), axial diffusivity (AD), and fractional anisotropy of water within the VOI were extracted from DTI measurements. DWS and DTI data from patients with DMD (respectively n = 20 and n = 18) and n = 10 healthy controls were included. No differences in metabolite ADC or in concentration ratios were found between patients with DMD and controls. In contrast, water diffusion (MD, t = −2.727, p = 0.011; RD, t = −2.720, p = 0.011; AD, t = −2.715, p = 0.012) within the VOI was significantly higher in patients compared with healthy controls. Taken together, our study illustrates the potential of combining DTI and DWS to gain a better understanding of microstructural changes and their association with disease mechanisms in a clinical setting.
Author(s): Govaarts R, Doorenweerd N, Najac CF, Broek EM, Tamsma ME, Hollingsworth KG, Niks EH, Ronen I, Straub V, Kan HE
Publication type: Article
Publication status: Published
Journal: NMR in Biomedicine
Year: 2024
Pages: epub ahead of print
Online publication date: 15/07/2024
Acceptance date: 15/06/2024
Date deposited: 24/07/2024
ISSN (print): 0952-3480
ISSN (electronic): 1099-1492
Publisher: John Wiley and Sons Ltd
URL: https://doi.org/10.1002/nbm.5212
DOI: 10.1002/nbm.5212
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