Biomarkers of Myotonic Dystrophy Type I (DM1) with rsfMRI and neuropsychological assessment.

Myotonic Dystrophy Type I (DM1) is a neurodegenerative and hereditary disorder; its more typical symptoms are muscle weakness and hypotonia, which may lead to several complications like respiratory failure and cardiac arrest. The aim of this study is to find biomarkers that help us to characterize the evolution of this disorder related neuropsychological process and the Blood Oxygen Level Dependent (BOLD) functional connectivity in the brain. In the present work 44 volunteer participants (22 classic DM1 patients, and 22 healthy control subjects) were matched by age, gender and level education, then underwent an MRI session in a 3T Philips Ingenia scanner with a 32 channel head sense coil. The parameters for the resting state fMRI data are sequence FE-EPI, TR=2000ms, TE=30 ms and 3mm3 spatial resolution, the participants had the eyes open watching the cross mark in the screen. The participants also underwent a neuropsychological CANTAB battery assessment where we could identify cognitive impairments in sensorimotor, attention, memory and executive functions domains in patients with DM1. The image postprocess analysis was done with specialized software FSL 5.0.8 using MELODIC package and PICA.