Objective: To describe the evolutionary pattern of brain structural changes in patients with RFC1-related disorder.

Background: Specific brain structural changes have been described in patients with RFC1-related disorder, but there is no description of longitudinal assessments of these parameters to date.

Method: Ten patients with molecular diagnosis of RFC1 expansions and 10 age-and-sex matched healthy controls underwent 3T MRI scans with a 2-year interval. T1-weighted and diffusion tensor images (DTI) were acquired. FreeSurfer software was used for evaluation of gray matter, CerebNet for cerebellar structural assessment, DTI multiatlas for white matter integrity, and the Spinal Cord Toolbox (SCT) for spinal cord evaluation. A hypothesis-driven approach was employed for the selection of structures analyzed. Covariance analysis was utilized to examine longitudinal changes between groups, with effect sizes calculated for significant findings.

Results: The RFC1 group had progressive atrophy in the brainstem (P = 0.005, ES = 2.18), left hippocampus (P = 0.033, ES = 1.21), and right thalamus (P = 0.014, ES = 1.24), progressive reduction of spinal cord cross-sectional area at the C1 (P = 0.033, ES = 1.09) and progressive increase in middle cerebellar peduncle axial diffusivity (P = 0.005, ES = 1.44) compared to controls. Cerebellar gray and white matter showed no longitudinal change. In the same interval, the mean SARA score increased from 15.2±5.1 to 19.4±7.9 (ES = 0.62).

Conclusion: Quantitative neuroimaging is able to capture disease progression in RFC1-related disorder after 2 years and is more sensitive than clinical evaluation. Morphometric and diffusivity parameters of the brainstem are promising neuroimaging candidates to track disease course.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/two-year-longitudinal-evaluation-of-ataxia-and-brain-structural-changes-in-rfc1-related-disorder/