ArticleMovement disorders clinical practice2025
Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder.
Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS): A case report ofRadiology case reports · 2026Article
- Thalamic dysconnection and sensorimotor impairment in SCA10.Brain imaging and behavior · 2026Article
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13 authors.
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Abstract
backgroundThe progression of brain damage in CANVAS/RFC1 remains unclear.
objectiveTo describe longitudinal brain changes in CANVAS/RFC1.
methodsTen 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).
resultsCANVAS/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).
conclusionsPatients 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.
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