Default mode network modifications in Fabry disease: A resting‐state fMRI study with structural correlations |
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Authors: | Giuseppe Pontillo Mario Quarantelli Francesco Saccà Eleonora Riccio Teresa Costabile Gaia Olivo Vincenzo Brescia Morra Antonio Pisani Arturo Brunetti Enrico Tedeschi AFFINITY study group |
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Affiliation: | 1. Department of Advanced Biomedical Sciences, University “Federico II,”, Naples, ItalySirio Cocozza and Giuseppe Pontillo contributed equally to this study.;2. Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy;3. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University “Federico II,”, Naples, Italy;4. Department of Public Health, Nephrology Unit, University “Federico II,”, Naples, Italy;5. Department of Neuroscience, Uppsala University, Uppsala, Sweden;6. Department of Advanced Biomedical Sciences, University “Federico II,”, Naples, Italy |
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Abstract: | Aim of the study was to evaluate the presence of Default Mode Network (DMN) modifications in Fabry Disease (FD), and their possible correlations with structural alterations and neuropsychological scores. Thirty‐two FD patients with a genetically confirmed diagnosis of classical FD (12 males, mean age 43.3 ± 12.2) were enrolled, along with 35 healthy controls (HC) of comparable age and sex (14 males, mean age 42.1 ± 14.5). Resting‐State fMRI data were analyzed using a seed‐based approach, with six different seeds sampling the main hubs of the DMN. Structural modifications were assessed by means of Voxel‐Based Morphometry (VBM) and Tract‐Based Spatial Statistics analyses. Between‐group differences and correlations with neuropsychological variables were probed voxelwise over the whole brain. Possible correlations between FC modifications and global measures of microstructural alteration were also tested in FD patients with a partial correlation analysis. In the FD group, clusters of increased functional connectivity involving both supratentorial and infratentorial regions emerged, partially correlated to the widespread white matter (WM) damage found in these patients. No gray matter volume differences were found at VBM between the two groups. The connectivity between right inferior frontal gyrus and precuneus was significantly correlated with the Corsi block‐tapping test results (p = .0001). Widespread DMN changes are present in FD patients that correlate with WM alterations and cognitive performance. Our results confirm the current view of a cerebral involvement in FD patients not simply associated to major cerebrovascular events, but also related to significant and diffuse microstructural and functional changes. |
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Keywords: | fabry disease default mode network resting-state fMRI tract-based spatial statistics |
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