ORPHA:98756
Spinocerebellar ataxia type 2
Also known as: SCA2
Publications
1,292
91.9th percentile
Trials
10
Interventional, condition-specific
Researchers
1,175
Distinct authors in sample
Gene link
ATXN2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 2 (SCA2) is a subtype of type I cerebellar (ADCA type I) characterized by truncal , dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008458
- OMIM:183090
- UMLS:C0752121
- NCIT:C148315
Additional Mondo synonyms (4)
ATXN2 autosomal dominant cerebellar ataxia type I · OPCA2 · autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2 · spinocerebellar ataxia type 2
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.
- Gene identifiedPresent
Definitive — ATXN2
- LiteraturePresent
1,292 matched papers (689 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
10 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 (ATXN2).
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?
1,292
1,292 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=5449) is 41.
1,292 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).
689 in the last 10 years · medium confidence · 91.9th percentile (publications denominator)
Phrase hits: 1,292 · MeSH hits: 0
Who's working on it?
1,175
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.
- 01Velázquez-Pérez L27 papers · 2026
Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Papers in Europe PMC - 02Auburger G26 papers · 2026
Experimental Neurology, Goethe University Medical School, Frankfurt 60590, Germany.
Papers in Europe PMC - 03Rodríguez-Labrada R20 papers · 2026
Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Papers in Europe PMC - 04Pulst SM15 papers · 2026
Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
Papers in Europe PMC - 05Vázquez-Mojena Y15 papers · 2026
Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Papers in Europe PMC - 06Almaguer-Mederos LE13 papers · 2026
Center for the Investigation and Rehabilitation of Hereditary Ataxias (CIRAH), Holguín, Cuba.
Papers in Europe PMC - 07Key J13 papers · 2026
Experimental Neurology, Clinic of Neurology, Faculty of Medicine, Goethe University, 60590 Frankfurt am Main, Germany.
Papers in Europe PMC - 08Gispert S11 papers · 2026
Experimental Neurology, Clinic of Neurology, Faculty of Medicine, Goethe University, 60590 Frankfurt am Main, Germany.
Papers in Europe PMC - 09Medrano-Montero J9 papers · 2026
Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.
Papers in Europe PMC - 10Canales-Ochoa N8 papers · 2024
Center for the Investigation and Rehabilitation of Hereditary Ataxias (CIRAH), Holguín, Cuba.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
10
interventional trials for this specific condition
10 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
10 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.7th percentile).
medium confidence · 91.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
10 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT03378414·NOT YET RECRUITING·Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia
Conditions: Spinocerebellar Ataxia Type 1 · Spinocerebellar Ataxia Type 2 · Spinocerebellar Ataxia Type 3 · Spinocerebellar Ataxia Type 6·Matched via name phrase
Observational and natural-history studies
4 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.
None of the matched observational studies is currently listed as recruiting.
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
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 2026-07-26This 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.
"Spinocerebellar ataxia type 2" OR "ATXN2 autosomal dominant cerebellar ataxia type I" OR "OPCA2" OR "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 2" OR "ATXN2 autosomal dominant cerebellar ataxia type I" OR "OPCA2" OR "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" OR "ATXN2"
Recall-expansion terms: ATXN2
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 10 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SCA2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:20:19.399Z