Truncating Variants in in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Background And Objective: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult-onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In most cases, the disease is caused by biallelic (AAGGG) repeat expansions in the second intron of the replication factor complex subunit 1 (). However, a small number of cases with typical CANVAS do not carry the common biallelic repeat expansion.