Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.

Also known as: CABV syndrome, CANVAS, HSAN with cough and gastroesophageal reflux, HSAN1B, HSN1B, cerebellar ataxia with bilateral vestibulopathy syndrome, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux

27 clinical trials for this condition and its sub-types, 2 tagged with Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome itself.