Objective: To describe the prevalence and clinical profile of cerebellar cognitive affective syndrome (CCAS) in patients with RFC1-related disorder.

Background: Since the recent description of RFC1 intronic expansions as the cause of the cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) its phenotype is broadening. So far, little is known about the frequency and profile of cognitive impairment in the disease. The Cerebellar Cognitive Affective Syndrome Scale (CCAS-S) is a scale specifically designed to capture neuropsychological changes in patients with cerebellar ataxia, but its use in RFC1 patients has not yet been pursued.

Method: This is an observational, multicentric study, including 11 patients with molecular confirmation of RFC1 expansions enrolled between October/2022 and January/2023. The Brazilian Portuguese version of the CCAS-S was applied by the same rater and in the same physical space for all individuals. A failure score of ≥3 cognitive domains indicate definite, ≥2 indicates probable and ≥1 possible CCAS.

Results: The mean age of RFC1 patients were 58.5±6.4 years. The mean SARA score was 19 ±7.6. In our sample, 8 (73%) RFC1 patients had definite CCAS, 2 (18%) had probable CCAS and 1 (9%) had possible CCAS. Mean CCAS-S raw score was 73.5 ±15.7 and the mean number of failed domains was 4.6 ±2.5. The cognitive domains with the worst performance were respectively: abstract thinking (100% failure), visual-spatial (64%) and executive function (55%).

Conclusion: RFC1-related disorder patients have a high frequency of CCAS. The CCAS scale is an interesting tool to assess cognitive functions in these patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-cognitive-affective-syndrome-is-frequent-in-rfc1-related-disorder/