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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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Phase: NA • Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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Ultrasound may spot rare nerve disease CANVAS
Diagnosis CompletedThis study tested whether ultrasound of the nerves can help diagnose CANVAS, a rare genetic disorder that causes balance problems, nerve damage, and dizziness. Researchers measured nerve size in 35 people with confirmed CANVAS and compared them to healthy individuals. The goal wa…
Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Diagnosis
Last updated Jun 27, 2026 08:01 UTC
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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Phase: NA • Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC