Identification of brain alterations specifically associated with Duchenne Muscular Dystrophy using multi-modal MRI and multivariate analysis

Duchenne Muscular Dystrophy (DMD) is a genetic disease caused by an abnormal dystrophin expression and it is often associated with other cognitive and behavioral impairments, which are an important confounding factor while investigating the effects of dystrophin abnormal expression in the central nervous system. We applied a Machine Learning based analysis to T1-weighted and Diffusion Tensor Imaging data of 36 subjects accounting also for their demographic, cognitive and behavioral profiles. DMD is specifically associated with a reduced microstructural integrity of long fiber bundles and a reduced cortical thickness of the motor cortex, cingulate cortex, hippocampus and insula.