Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Definition:

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an adult-onset, slowly progressive neurological disorder characterized by imbalance, sensory neuropathy, bilateral vestibulopathy, and chronic cough. Biallelic expansion of an intronic repeat in RFC1 is a cause of CANVAS.

References:

[1]. Americo A Migliaccio, et al. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain. 2004 Feb;127(Pt 2):280-93. [Content Brief]

[2]. Andrea Cortese, et al. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. [Content Brief]

[3]. David J Szmulewicz, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci. 2011 Sep;1233:139-47. [Content Brief]

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