RFC1 and cerebellar ataxia: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS; Online Mendelian Inheritance in Man: 614575) is an autosomal recessive, slowly progressive disease characterized by a triad of features: sensory neuropathy/neuronopathy, cerebellar dysfunction and bilateral vestibulopathy.1‐3 First described as a distinct syndrome by Szmulewicz et al.,2 the genetic basis for the disease was independently discovered in 2019 by both Cortese et al.4 and Rafehi et al.5 CANVAS is associated with biallelic pathogenic pentanucleotide expansions within the second intron of the RFC1 gene.