Abstract #4027

Combined structural and functional connectivity changes in Fabry disease

Ilaria Gabusi^1,2, Giuseppe Pontillo^2,3, Simona Schiavi^1,4, Sara Bosticardo^1,5, Maria Petracca⁶, Matteo Battocchio^1,7, 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

Synopsis

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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