Indeed, biallelic penta-nucleotide expansions in in the second intron of RFC1 are associated to cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS, MIM #614575), a frequent late-onset idiopathic ataxia and sensory neuropathy (Ibañez et al. 2024). Here, RFC1 is linked to cerebellar ataxia.