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ORPHA:504476

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

low confidenceDisorder

Also known as: CABV syndrome · CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

Publications

20,228

Trials

3

Interventional, condition-specific

Researchers

1,510

Distinct authors in sample

Gene link

RFC1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare slowly syndromic cerebellar characterized by late-onset cerebellar dysfunction (including gait and limb , nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory . Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

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 · hereditary sensory and autonomic neuropathy type 1B · hereditary sensory and autonomic neuropathy type IB · hereditary sensory neuropathy type IB · neuropathy, hereditary sensory and autonomic, type 1B · neuropathy, hereditary sensory, type IB

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — RFC1

  2. LiteraturePresent

    20,228 matched papers (12,739 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (RFC1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

20,228

20,228 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

20,228 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

12,739 in the last 10 years · low confidence

Phrase hits: 20,228 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,510

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Cortese A20 papers · 2026

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  2. 02
    Houlden H19 papers · 2026

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  3. 03
    Reilly MM15 papers · 2025

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  4. 04
    Dominik N10 papers · 2025

    Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

    Papers in Europe PMC
  5. 05
    Lockhart PJ10 papers · 2026

    Department of Neurology (D.A.S., D.W., Y.M., S.P., B.L.F.), Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (D.W., B.L.F.), Clinical Neurogenomics Research Center, David Geffen School of Medicine, University of California, Los Angeles; Department of Human Genetics (S.A., M.S., S.D.), University of Chicago, IL; Department of Neurology (C.M.D.G., V.K.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (G.G., C.M.G.), University of Chicago, IL; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; Department of Paediatrics (P.J.L.), University of Melbourne, Parkville, Australia; Sackler Faculty of Medicine (S.H.-B.), Tel-Aviv University, Tel-Aviv, Israel; and Department of Human Genetics (B.L.F.), David Geffen School of Medicine, University of California, Los Angeles.

    Papers in Europe PMC
  6. 06
    Synofzik M8 papers · 2026

    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Currò R7 papers · 2026

    Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom; and.

    Papers in Europe PMC
  8. 08
    Strupp M7 papers · 2026

    Department of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.

    Papers in Europe PMC
  9. 09
    Sullivan R6 papers · 2024

    Department of Neuromuscular Disease, University College London.

    Papers in Europe PMC
  10. 10
    Traschütz A6 papers · 2026

    Research Division "Translational Genomics of Neurodegenerative Diseases", Hertie- Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" OR "CABV syndrome" OR "CANVAS" OR "Cerebellar ataxia with bilateral vestibulopathy syndrome" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "HSN1B" OR "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" OR "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "hereditary sensory and autonomic neuropathy type 1B" OR "hereditary sensory and autonomic neuropathy type IB" OR "hereditary sensory neuropathy type IB" OR "neuropathy, hereditary sensory and autonomic, type 1B" OR "neuropathy, hereditary sensory, type IB"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" OR "CABV syndrome" OR "CANVAS" OR "Cerebellar ataxia with bilateral vestibulopathy syndrome" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "HSN1B" OR "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" OR "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "hereditary sensory and autonomic neuropathy type 1B" OR "hereditary sensory and autonomic neuropathy type IB" OR "hereditary sensory neuropathy type IB" OR "neuropathy, hereditary sensory and autonomic, type 1B" OR "neuropathy, hereditary sensory, type IB" OR "Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux" OR "RFC1"

Recall-expansion terms: RFC1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "HSAN with cough and gastroesophageal reflux" also appears on ORPHA:139564
  • "HSAN1B" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type 1B" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type IB" also appears on ORPHA:139564
  • Publication count (20228) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:46:58.650Z