Biallelic intronic expansions in RFC1 cause cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), which may present with hyperreflexia despite the coexistence of severe sensory neuropathy. The mechanism of this apparent corticospinal involvement remains unclear.
✦ The floor
Discussion
Signed responses from readers of the wire.
No immediate change to audiology practice; however, clinicians managing CANVAS patients should be aware that motor pathway involvement (hyperreflexia) may coexist with severe sensory neuropathy, potentially informing multidisciplinary assessment.
Characterising corticospinal involvement in RFC1-related CANVAS refines the neurological profile of this vestibular areflexia syndrome and may guide future diagnostic criteria and monitoring.
- 01TMS revealed preserved or heightened corticospinal conduction (hyperreflexia) in RFC1-CANVAS patients.
- 02Hyperreflexia occurred despite severe sensory neuropathy, a seemingly paradoxical finding.
- 03RFC1-related CANVAS includes cerebellar ataxia, neuropathy, and vestibular areflexia — a triad relevant to vestibular audiologists.
- 04Published in Neurological Sciences (2026); doi: 10.1007/s10072-026-09277-w.
- 05Findings add to the neurophysiological characterisation of a rare but clinically significant genetic condition.
Patients with RFC1-related CANVAS demonstrate hyperreflexia despite severe sensory neuropathy, as measured by TMS.
studypartially supportedCorticospinal conduction is abnormal in RFC1-related disease.
studyunclear- PMID
- 42554841
- DOI
- 10.1007/s10072-026-09277-w.
- Journal
- Neurological Sciences
- Publication type
- research_article
- Evidence level
- 4
- Population
- Patients with RFC1-related CANVAS syndrome (cerebellar ataxia, neuropathy, vestibular areflexia syndrome)
- Intervention
- Transcranial magnetic stimulation (TMS) assessment of corticospinal conduction
Primary outcomes
Corticospinal conduction integrity as measured by TMS; Presence and characterisation of hyperreflexia in RFC1-CANVAS