The involvement of the corticospinal tracts (CST) and cerebellum are the disease hallmarks of ARSACS. Previous radiological studies documented the presence of specific findings which were described as linear hypointensities in T2-weighted images at the level of the pons.This finding has become very suggestive of ARSACS when seen in brain MRIs; however, its significance is still unclear, with some studies proposing that it could be due to abnormal developmental of the brain.We aim to use advanced Magnetic Resonance (MR) techniques that combine diffusion and magnetization transfer imaging to clarify the properties of the corticospinal tract in individuals with ARSACS and thus clarify the meaning of the pontine findings.Additionally, we aim to confirm the presence of similar findings in the SACS-mutant mouse model, to verify its usefulness as a pre-clinical model for future therapeutic options. 

Grant: $95,420

This project has been jointly funded with the Richardson Trust Fund who made a 50 000$ contribution. 

Duration : one year