Alfredo Montella, Mario Tranfa, Alessandra Scaravilli, Frederik Barkhof, Arturo Brunetti, James Cole, Michela Gravina, Stefano Marrone, Daniele Riccio, Eleonora Riccio, Carlo Sansone, Letizia Spinelli, Maria Petracca, Antonio Pisani, Sirio Cocozza, Giuseppe Pontillo
While neurological manifestations are core features of Fabry disease (FD), quantitative neuroimaging biomarkers allowing to measure brain involvement are lacking. We used deep learning and the brain-age paradigm to assess whether FD patients' brains appear older than normal and to validate brain-predicted age difference (brain-PAD) as a possible disease severity biomarker. MRI scans of FD patients and healthy controls (HCs) from a single Institution were, retrospectively, studied. The Fabry stabilization index (FASTEX) was recorded as a measure of disease severity...
April 2024: Human Brain Mapping