Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
MONDO:0044720An 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.
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Can intense walking training help brain injury patients walk better?
Symptom relief Not yet recruitingThis study looks at whether high-intensity walking training can help people with cerebellar damage (a part of the brain that controls balance and coordination) improve their walking ability. Twenty participants will either do intense walking exercises or standard training. The go…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 13:01 UTC
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Could your age change how a nerve test reads your nerves?
Knowledge-focused Not yet recruitingThis study looks at whether a person's age influences the accuracy of a nerve test called the sural-to-radial amplitude ratio (SRAR) in telling apart two types of peripheral neuropathy: length-dependent and non-length-dependent. Researchers will review medical records from about …
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jul 26, 2026 00:00 UTC
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AI vs. experts: can a computer judge speech as well as a human?
Knowledge-focused Not yet recruitingThis study will compare how well an AI program (Blings) measures speech clarity in 40 adults with speech disorders from stroke or other neurological conditions. Two speech therapists will also rate the same speech samples. The goal is to see if the AI can reliably replace or assi…
Sponsor: Pusan National University Yangsan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC