CANVAS syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
CANVAS syndrome: clinical features. RFC1: the is an AAGGG repeat expansion. Fully referenced neurology checklist.
Genetic mutations
- RFC1: the is an AAGGG repeat expansion
- ELF2: this regulates the expression of the ATXN2 and ELOVL5 genes
- The transmission is autosomal recessive
Pathology
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Core features
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Central neurological features
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Peripheral neurological features
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Differential diagnosis
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Acronyms
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References
- Szmulewicz DJ, Waterston JA, Halmagyi GM, et al. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology 2011; 76:1903-1910.
- Szmulewicz DJ, McLean CA, Rodriguez ML, et al. Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology 2014; 82:1410-1415.
- Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, Halmagyi GM. CANVAS an update: clinical presentation, investigation and management. J Vestib Res 2014; 24:465-474.
- Ahmad H, Requena T, Frejo L, et al. Clinical and functional characterization of a missense ELF2 variant in a CANVAS family. Front Genet 2018; 9:85.
- Cortese A, Simone R, Sullivan R, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 2019; 51:649-658.
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