Background and Objectives The RFC1 spectrum has become considerably expanded as
multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular …

Objective To delineate the full phenotypic spectrum, discriminative features, piloting
longitudinal progression data, and sample size calculations of replication factor complex …

Introduction Pathogenic expansions in RFC1 have been described as a cause of a spectrum
of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy …

We read with great interest the article by Cortese and colleagues (2020) describing 100
carriers of the RFC1 expansion. This study explores the phenotypic spectrum of RFC1 …

We read with great interest the article by Currò et al., 1 who screened for RFC1 repeat
expansions in patients with chronic idiopathic axonal polyneuropathy. The authors identified …

After extensive evaluation, one-third of patients affected by polyneuropathy remain
undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which …

In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor
C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and …

The cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a late-
onset and recessively inherited ataxia. For many years, CANVAS has been diagnosed …

Background and Objective Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
(CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult …

Background and purpose Biallelic mutation/expansion of the gene RFC1 has been
described in association with a spectrum of manifestations ranging from isolated sensory …