CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome) is an autosomal recessive disorder caused by a pentanucleotide expansion in the RFC1 gene. It is likely the most common cause of autosomal recessive ataxia in Sweden. The genetic basis of the disease was identified in 2019....
Audiologists and balance specialists should consider RFC1-related CANVAS syndrome in patients presenting with unexplained vestibular loss combined with neuropathy or cerebellar signs, as the condition is underdiagnosed and has a wide clinical spectrum.
CANVAS syndrome is frequently misdiagnosed; recognition of its broad spectrum — including vestibular areflexia — directly implicates audiology and vestibular clinics in earlier identification and multidisciplinary referral.
- 01CANVAS syndrome (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia) is caused by RFC1 gene mutations.
- 02Clinical presentation ranges from chronic cough and neuropathy to full cerebellar ataxia.
- 03Vestibular areflexia (absent balance-nerve responses) is a core feature relevant to audiology.
- 04The condition is likely underdiagnosed due to its variable presentation.
- 05Genetic testing for RFC1 mutations is key to definitive diagnosis.
RFC1 gene mutations cause a clinical spectrum ranging from isolated cough and neuropathy to full CANVAS syndrome with cerebellar ataxia and vestibular areflexia.
studysupportedCANVAS syndrome is underdiagnosed due to its broad and variable clinical presentation.
opinionpartially supported- PMID
- 42290619
- DOI
- 10.65868/DVPU445.
- Publication type
- review
- Evidence level
- 5
- Population
- Patients with RFC1 gene mutations presenting across the CANVAS syndrome spectrum
- Intervention
- Review of RFC1-related CANVAS syndrome clinical spectrum
Primary outcomes
Clinical spectrum description of RFC1-related disease; Diagnostic criteria for CANVAS syndrome