Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

Abstract

Our report expands the genotype spectrum of RFC1 disease. Full <i>RFC1</i> sequencing is recommended in cases affected by typical CANVAS and carrying monoallelic (AAGGG)_n expansions. In addition, it sheds further light on the pathogenesis of RFC1 CANVAS because it supports the existence of a loss-of-function mechanism underlying this complex neurodegenerative condition.