Magnetic Resonance Imaging (MRI) is a tool with an unquestionable role in the study of neurodegenerative disorders, both for diagnostic purposes and for its ability of providing imaging-derived biomarkers with a growing central role as reliable outcomes in clinical trials. This is even more relevant when dealing with rare disorders such as the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), in which the sea...

Historically, Friedreich’s Ataxia (FRDA) has been linked to a relatively preserved cerebellar cortex. Recent advances in neuroimaging have revealed altered cerebello-cerebral functional connectivity (FC), but the extent of intra-cerebellar FC changes and their impact on cognition remains unclear. This study investigates intra-cerebellar FC alterations and their cognitive implications in FRDA. In this cross-sectional, single-ce...

The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and overlapping clinical findings. In this light, Magnetic Resonance Imaging (MRI) plays a key role in the evaluation of these conditions, being a fundamental diagnostic tool needed not only to exclude other causes determining the observed clini...