Functional MRI Studies in Friedreich's Ataxia: A Systematic Review

Vavla M, Arrigoni F, Peruzzo D, Montanaro D, Frijia F, Pizzighello S, De Luca A, Della Libera E, Tessarotto F, Guerra P, Harding IH and Martinuzzi A (2022); Front. Neurol. 12:802496. doi: 10.3389/fneur.2021.802496 

fMRI designs included motor and cognitive task paradigms, and resting-state studies, with widespread changes in functionally activated areas and extensive variability in study methodologies. These studies highlight a mixed picture of both hypoactivation and hyperactivation in different cerebral and cerebellar brain regions depending on fMRI design and cohort characteristics. Functional changes often correlate with clinical variables. In aggregate, the findings provide support for cerebro-cerebellar loop damage and the compensatory mechanism hypothesis. Current literature indicates that fMRI is a valuable tool for gaining in vivo insights into FRDA pathology, but addressing that its limitations would be a key to improving the design, interpretation, and generalizability of studies in the future.