Combined structural and functional connectivity changes in Fabry disease
Ilaria Gabusi1,2, Giuseppe Pontillo2,3, Simona Schiavi1,4, Sara Bosticardo1,5, Maria Petracca6, Matteo Battocchio1,7, Antonio Pisani8, Arturo Brunetti2, Alessandro Daducci1, and Sirio Cocozza2
1Department of Computer Science, University of Verona, Verona, Italy, 2Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy, 3Department of Electrical Engineering and Information Technology, University of Naples "Federico II", Naples, Italy, 4Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy, 5Department of Biomedical Engineering, University Hospital Basel and University of Basel, Basel, Switzerland, 6Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy, 7University of Sherbrooke, Sherbrooke, QC, Canada, 8Department of Public Health, University of Naples "Federico II", Naples, Italy
Central nervous system involvement in Fabry disease (FD) patients is known, but the effects on brain connectivity have never been explored at macro-scale level. Here, we investigate both structural (SC) and functional connectivity (FC) by analyzing diffusion and resting-state functional MRI. We applied a graph theory approach to compare connectomes of patients and controls and we explored how altered global network metrics are related to patients’ outcome in neuropsychological tests. Our results show that FD patients present a loss of axonal integrity which leads to a widespread reorganization of brain structural and functional architecture, related to their clinical performances.
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