Does CANVAS mimic MSA-C? A prospective multimodal study

AAGGG intronic expansions in RFC1 are responsible for Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), but also ataxia associated to dysautonomia, parkinsonism and pyramidal syndrome, creating clinical overlap with multiple system atrophy of cerebellar type (MSA-C)....

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Audiologists and vestibular specialists should be aware that CANVAS (with its vestibular areflexia) can present with features—like dysautonomia and parkinsonism—that mimic MSA-C, warranting consideration of RFC1 genetic testing in ambiguous cases before labeling a patient with MSA-C.

Misdiagnosing CANVAS as MSA-C has major prognostic and counselling implications; clearer differentiation criteria could spare patients incorrect diagnoses and guide appropriate genetic counselling.

1. 01CANVAS is caused by RFC1 AAGGG intronic repeat expansions and features cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia.
2. 02MSA-C is a progressive neurodegenerative disease; both conditions can present with ataxia, dysautonomia, and parkinsonism, creating diagnostic confusion.
3. 03Prospective multimodal assessment was used to characterise the overlap between the two conditions.
4. 04Correct diagnosis has significant implications for prognosis, genetic counselling, and patient management.
5. 05Published in Journal of Neurology, a peer-reviewed source, lending methodological credibility.

PMID

42616133

DOI

10.1007/s00415-026-14005-7.

Journal

Journal of Neurology

Publication type

research_article

Evidence level

2b

Population

Patients with confirmed CANVAS (RFC1 AAGGG expansions) and/or MSA-C evaluated prospectively

Intervention

Prospective multimodal clinical assessment of CANVAS patients

Comparator

MSA-C patients