Current and future applications of brain magnetic resonance imaging in ARSACS.

Abstract

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 search of diagnostic and prognostic biomarker is crucial. Due to the rarity of this condition, a comprehensive knowledge of MRI signs observed in ARSACS is lacking. Furthermore, many domains remain still unexplored in ARSACS, especially with reference to the application of advanced imaging techniques that could shed light on the pathophysiological mechanisms of brain damage in this disorder. In this review, after a brief introduction on the major conventional and advanced MRI techniques that can used for diagnostic and research purposes, we present current neuroradiological knowledge in ARSACS. Having discussed strength and weak points of conventional and advanced imaging findings, we also suggest possible future research in this neurologically complex clinical condition.