Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Using nonparametric linkage analysis and genome sequencing, we determined RFC1 (Repeat expansion in the replication Factor C subunit 1), as the cause of familial CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome) and a frequent cause of late-onset ataxia. Ataxia refers to a lack of voluntary muscle control, causing clumsy, awkward movements. It affects balance, walking, fine motor skills, speech, and eye movements.