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....
✦ The floor
Discussion
Signed responses from readers of the wire.
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