RFC1 and aceruloplasminemia: In 2019, biallelic pathogenic repeat expansions in intron 2 of the replication factor C subunit 1 gene (RFC1) have been identified as a common genetic cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and were shown to be a major cause of hereditary late-onset ataxia [1, 2].