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Abstract #1921

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

Denis Peruzzo1, Tommaso Ciceri1, Sara Mascheretti2, Valentina Lampis3, Filippo Arrigoni4, Nivedita Agarwal1, Alice Giubergia1, Filippo Maria Villa3, Alessandro Crippa3, Maria Nobile3, Elisa Mani3, Annamaria Russo5, and Maria Grazia D'Angelo5
1Neuroimaging Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy, 2Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy, 3Child Psychopathology Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy, 4Paediatric Radiology and Neuroradiology Department, V. Buzzi Children’s Hospital, Milano, Italy, 5NeuroMuscular Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Italy

Synopsis

Keywords: Neurodegeneration, Genetic DiseasesDuchenne 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.

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Keywords