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Updated: May 11, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder
Camila C Lobo1, Thiago J R Rezende1, Luciana R Pimentel-Silva1
1Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Campinas, Brazil.
Background:
The progression of brain damage in CANVAS/RFC1 remains unclear.
Objective:
To describe longitudinal brain changes in CANVAS/RFC1.
Methods:
Ten RFC1-positive patients and 10 controls underwent 3T-MRI scans 2 years apart. We analyzed cerebral gray and white matter using FreeSurfer and DTI multiatlas, the cerebellum with CerebNet, and the spinal cord with Spinal Cord Toolbox, respectively. Ataxia severity was measured with SARA. Longitudinal changes were assessed using mixed-effect models and Standardized Response Mean (SRM).
Results:
CANVAS/RFC1 patients (mean disease duration: 8.5 ± 3.7 years) showed progressive atrophy in the brainstem (SRM:-3.5), left hippocampus (SRM:-2.1), right thalamus (SRM:-2.6), left cerebellar lobules VI (SRM:-1.1) and X (SRM:-0.7), and reduced spinal cord area at C1 and C2 (SRM:-0.7 each). SARA variation showed lower sensitivity (SRM:0.7).
Conclusions:
Patients with CANVAS/RFC1 showed progressive, asymmetrical volume reduction of structures in the brain and spinal cord (C1 and C2), over a period of 2 years, using 3-tesla MRI.
