Altered neurochemical profiles and volume loss in the cerebellum and brainstem as biomarkers in spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 is a rare, progressive movement disorder primarily affecting the cerebellum and closely connected brain regions. We assessed the dynamics of MR biomarkers and their utility as progression and/or predictive biomarkers in SCA1. SCA1 patients showed an altered neurochemical profile when compared to controls. Additionally, we measured a lower volume of affected regions in patients, clearly distinguishing them from controls. Altered volume correlated strongest with clinical scores, confirming the potential to use MR-markers to monitor SCA1 progression. Furthermore, MRS markers correlated with consequent change in volumetric measures, showing preliminary evidence for their predictive value in SCA1.