Spinocerebellar ataxias (SCAs) are rare neurodegenerative diseases characterized by progressive gait and balance problems. On the other hand, the two patients who were at the premanifest stage at baseline, and showed ataxia symptoms in their follow-up visits, displayed AD values in the MCP that were already in the range of symptomatic patients with SCA1 at their baseline visit, demonstrating that microstructural abnormalities are detectable prior to the onset of ataxia. The patient who remained symptom-free throughout the study displayed no microstructural abnormalities. Longitudinal ROI-based analysis showed significant increase in AD in the middle cerebellar peduncle (MCP) for patients with SCA1, suggesting that the MCP may be a good candidate region to monitor disease progression. FBA also highlighted corticospinal tract (CST) abnormalities, which was not detected by the other two pipelines. FBA showed lower fiber density (FD) and fiber crossing (FC) regions similar to those identified by ROI and TBSS analyses. Both ROI and TBSS analyses identified higher mean (MD), axial (AD), and radial (RD) diffusivity and lower fractional anisotropy (FA) in the cerebellum for all SCAs compared to controls, as well as some cerebral alterations in SCA1, 2, and 3. We further analyzed longitudinal changes in dMRI metrics throughout the brain using ROI-based analysis. Three different pipelines were used to perform cross-sectional analyses in WM: region of interest (ROI), tract-based spatial statistics (TBSS), and fixel-based analysis (FBA). We focused on two aspects: first, multimodal evaluation of the dMRI data in a cross-sectional approach, and second, longitudinal trends in dMRI data in SCAs. The SCA1 cohort also contained 3 premanifest patients at baseline, with 2 showing ataxia symptoms at the time of the follow-up scans. In this paper, we present dMRI data in SCAs type 1, 2, 3, and 6 and matched controls, including longitudinal acquisitions at 12–24-month intervals in a subset of the cohort, with up to 5 visits. Diffusion MRI (dMRI) has been shown to identify cross-sectional degeneration of white matter (WM) microstructure and connectivity between healthy controls and patients with SCAs, using various analysis methods. 3Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, United Statesĭevelopment of imaging biomarkers for rare neurodegenerative diseases such as spinocerebellar ataxia (SCA) is important to non-invasively track progression of disease pathology and monitor response to interventions.2Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN, United States.1Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota Medical School, Minneapolis, MN, United States.Eberly 1,2 Gülin Öz 1 Christophe Lenglet 1 * Joers 1 Bin Guo 2 Diane Hutter 1 Khalaf Bushara 3 Isaac M.
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