ORPHA:284289
Adult-onset autosomal recessive cerebellar ataxia
Also known as: Autosomal recessive spinocerebellar ataxia type 10 · SCAR10
Publications
553
Trials
0
Interventional, condition-specific
Researchers
914
Distinct authors in sample
Gene link
ANO10
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, cerebellar disease characterized by adulthood-onset of slowly spinocerebellar , manifesting with gait and appendicular , dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, , retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013392
- OMIM:613728
- UMLS:C3150998
Additional Mondo synonyms (4)
ANO10 autosomal recessive cerebellar ataxia · autosomal recessive cerebellar ataxia caused by mutation in ANO10 · autosomal recessive spinocerebellar ataxia type 10 · spinocerebellar ataxia, autosomal recessive type 10
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ANO10
- LiteraturePresent
553 matched papers (430 in last 10 years) Source
- Phenotype characterisedPresent
47 HPO annotations (e.g. Intention tremor; Dysmetria; Pes cavus) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 2 for broader category autosomal recessive cerebellar ataxia
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 (ANO10).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
47
Associated phenotypes · MONDO:0013392
- Intention tremor
- Dysmetria
- Pes cavus
- Slow saccadic eye movements
- Tortuosity of conjunctival vessels
Showing 5 of 47 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
553
553 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
553 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
430 in the last 10 years · low confidence
Phrase hits: 126 · MeSH hits: 0
Who's working on it?
914
Distinct author names in 126 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Ashizawa T3 papers · 2018
Department of Neurology, Center for Movement Disorders and Neurorestoration College of Medicine, McKnight Brain Institute, University of Florida, 1149 South Newell Drive, L3-100, Gainesville, FL 32611, USA. Electronic address: tetsuo.ashizawa@neurology.ufl.edu.
Papers in Europe PMC - 02Bogdanova-Mihaylova P3 papers · 2022
Department of Neurology, Tallaght University Hospital, Dublin, Ireland.
Papers in Europe PMC - 03Chen L3 papers · 2025
College of Veterinary Medicine, Yangzhou University, 12 Wenhui East Road, Yangzhou, Jiangsu Province 225009, P.R.China.
Papers in Europe PMC - 04Fogel BL3 papers · 2024
From the Department of Neurology (S.W., K.J.N., H.A.S., D.Y.W., C.L., B.L.F.), the Clinical Neurogenomics Research Center (S.W., H.A.S., D.Y.W., C.L., B.L.F.), the Institute for Precision Health (S.W., C.L., B.L.F.), and the Department of Human Genetics (S.W., B.L.F.), David Geffen School of Medicine, University of California at Los Angeles (UCLA); 3billion, Inc. (J.K., Y.S., B.H., S.-I.H., R.K., S.W.R., E.L., G.S., H.L.).
Papers in Europe PMC - 05Jan YN3 papers · 2021
Department of Physiology, University of California at San Francisco, San Francisco, California 94158, USA.
Papers in Europe PMC - 06Kumar KR3 papers · 2025
Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.
Papers in Europe PMC - 07Petkovic M3 papers · 2021
Department of Physiology, University of California at San Francisco, San Francisco, California 94158, USA.
Papers in Europe PMC - 08Quinzii CM3 papers · 2025
Department of Neurology, Columbia University Medical Center, New York, NY, 10032, United States.
Papers in Europe PMC - 09Szmulewicz DJ3 papers · 2025
Balance Disorders and Ataxia Service, Royal Victoria Eye and Ear Hospital, Melbourne, Australia.
Papers in Europe PMC - 10Tammaro P3 papers · 2022
Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for autosomal recessive cerebellar ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2 interventional trials matched autosomal recessive cerebellar ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal recessive cerebellar ataxia
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04261127·RECRUITING·Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Conditions: Autosomal Recessive Cerebellar Ataxia·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Adult-onset autosomal recessive cerebellar ataxia — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("Adult-onset autosomal recessive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 10" OR "SCAR10" OR "ANO10 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in ANO10" OR "spinocerebellar ataxia, autosomal recessive type 10") OR ("ANO10" OR "ANO10 syndrome" OR "ANO10-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adult-onset autosomal recessive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 10" OR "SCAR10" OR "ANO10 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in ANO10" OR "spinocerebellar ataxia, autosomal recessive type 10"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive cerebellar ataxia"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (553) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:02:52.535Z