AND OBJECTIVES: Biallelic intronic repeat expansions in the replication factor C subunit 1 ( RFC1 ) gene are a common cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome and other late-onset ataxias. Recent evidence suggests a broader phenotypic spectrum....
Audiologists and vestibular specialists should be aware that RFC1 disease frequently involves motor and cognitive symptoms alongside vestibular dysfunction, which may affect rehabilitation planning and referral pathways.
RFC1 disease is now recognised as a common genetic cause of vestibular dysfunction, and this meta-analysis clarifies its broader neurological profile, directly informing multidisciplinary care.
- 01RFC1 disease is a genetic cause of cerebellar ataxia (balance/coordination disorder), neuropathy (nerve damage), and vestibular (inner-ear balance) dysfunction.
- 02Systematic review and meta-analysis pooled data across multiple studies for robust estimates.
- 03Motor, extrapyramidal (movement control), and cognitive features are more prevalent than previously recognised.
- 04Findings have implications for multidisciplinary management and patient counselling.
- 05Vestibular involvement places RFC1 disease firmly within the scope of audiology/vestibular practice.
RFC1 disease is a common genetic cause of cerebellar ataxia, neuropathy, and vestibular dysfunction.
studysupportedMotor, extrapyramidal, and cognitive involvement are frequent features of RFC1 disease.
studysupported- PMID
- 42109533
- DOI
- 10.1212/NXG.0000000000200393.
- Journal
- Neurology Genetics
- Publication type
- meta_analysis
- Evidence level
- 1a
- Population
- Patients with RFC1 disease (genetic cerebellar ataxia, neuropathy, vestibular areflexia syndrome)
- Intervention
- Systematic review and meta-analysis of RFC1 disease motor, extrapyramidal, and cognitive features
Primary outcomes
Prevalence of motor involvement in RFC1 disease; Prevalence of extrapyramidal features in RFC1 disease; Prevalence of cognitive involvement in RFC1 disease