Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a disorder characterized by biallelic intronic (AAGGG) expansions in the RFC1 gene. However, the characterization of the cognitive and behavioral disturbances of these patients is still largely unknown....
No actionable change for current audiology practice; findings are exploratory and relevant primarily to specialists diagnosing RFC1/CANVAS disorder.
Characterising the neuropsychological and metabolic brain profile of CANVAS disorder may improve diagnostic accuracy and patient counselling for this underrecognised genetic vestibulo-cerebellar condition.
- 01CANVAS disorder is caused by biallelic AAGGG repeat expansions in the RFC1 gene.
- 02Patients present with cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia.
- 03FDG-PET imaging was used to map brain metabolic activity patterns in affected patients.
- 04Comprehensive neuropsychological testing characterised cognitive involvement alongside motor and vestibular deficits.
- 05Findings add detail to the clinical phenotype of RFC1-related disease beyond its core vestibular features.
RFC1-related CANVAS disorder is characterised by biallelic intronic AAGGG expansions causing cerebellar ataxia, neuropathy, and vestibular areflexia.
studysupportedFDG-PET imaging reveals distinct brain metabolic patterns in patients with RFC1-related CANVAS disorder.
studypartially supported- PMID
- 42172733
- DOI
- 10.1016/j.parkreldis.2026.108360.
- Journal
- Parkinsonism & Related Disorders
- Publication type
- research_article
- Evidence level
- 4
- Population
- Patients with RFC1-related CANVAS disorder (biallelic AAGGG intronic expansions)
- Intervention
- Comprehensive neuropsychological assessment and FDG-PET brain imaging
Primary outcomes
Neuropsychological performance profile; FDG-PET cerebral metabolic activity patterns