/Objectives: Vestibular dysfunction is an important feature of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) associated with biallelic RFC1 expansions. This study aimed to characterize both quantitative and qualitative vHIT findings in genetically confirmed CANVAS patients.
✦ The floor
Discussion
Signed responses from readers of the wire.
When evaluating patients with suspected or confirmed CANVAS syndrome, vHIT provides detailed canal-by-canal characterization of vestibular loss that should inform balance rehabilitation planning and monitoring.
Provides the most detailed vHIT-based vestibular profile of CANVAS syndrome to date, giving clinicians a clearer diagnostic and functional benchmark for this rare but increasingly recognized genetic condition.
- 01CANVAS syndrome is caused by biallelic RFC1 gene expansions and involves progressive balance, sensory, and autonomic nerve damage.
- 02Video head impulse testing (vHIT) was used to quantify function in all six semicircular canals (balance organs) in CANVAS patients.
- 03Both qualitative (observable abnormalities) and quantitative (measured gain) vHIT analyses were performed.
- 04Results characterize the pattern and severity of vestibular loss unique to CANVAS syndrome.
- 05Findings may assist in earlier diagnosis and guide vestibular rehabilitation for affected patients.
CANVAS syndrome caused by biallelic RFC1 expansions is associated with a characteristic pattern of vestibular dysfunction detectable by vHIT.
studysupportedQuantitative vHIT analysis provides additional diagnostic information beyond qualitative assessment in CANVAS patients.
studypartially supported- PMID
- 42930349
- DOI
- 10.3390/audiolres16050151.
- Journal
- Audiology Research
- Publication type
- research_article
- Evidence level
- 4
- Population
- Patients with CANVAS syndrome confirmed by biallelic RFC1 repeat expansions
- Intervention
- Qualitative and quantitative video head impulse test (vHIT) analysis across all semicircular canals
Primary outcomes
Vestibular gain per semicircular canal on vHIT; Presence and pattern of corrective saccades (catch-up eye movements) on qualitative vHIT; Overall vestibular function profile in CANVAS syndrome