Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late-onset neurodegenerative disorder associated with biallelic RFC1 repeat expansions. We report a 55-year-old woman with progressive imbalance, sensory neuronopathy, bilateral vestibular hypofunction, chronic cough, and orthostatic symptoms....
✦ The floor
Discussion
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CANVAS syndrome (RFC1-associated) should be on the differential for adults presenting with combined vestibular loss, cerebellar signs, and sensory neuropathy; this single case report does not change diagnostic protocols but reinforces the value of genetic testing and MRI in workup.
CANVAS syndrome is underdiagnosed, and raising awareness of RFC1 genetic testing alongside vestibular areflexia findings can reduce the diagnostic odyssey for patients with this progressive multi-system disorder.
- 01CANVAS syndrome combines cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia (complete inner-ear balance loss).
- 02RFC1 gene repeat expansion is the identified cause in this case.
- 03Radiological (brain imaging) findings are described, aiding diagnosis.
- 04Late-onset neurodegenerative presentation is typical; average diagnosis is often delayed.
- 05Genetic testing for RFC1 expansion is the key confirmatory step.
RFC1 repeat expansion causes CANVAS syndrome featuring cerebellar ataxia, sensory neuropathy, and vestibular areflexia.
studysupportedRadiological findings can assist in the diagnosis of RFC1-associated CANVAS syndrome.
studypartially supported- PMID
- 42871735
- DOI
- 10.1016/j.radcr.2026.09.016.
- Journal
- Radiology Case Reports
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Single patient with RFC1-associated CANVAS syndrome
- Intervention
- Multimodal diagnostic workup including genetic testing (RFC1) and neuroimaging
Primary outcomes
Radiological and clinical characterization of RFC1-associated CANVAS syndrome