ORPHA:98762
Spinocerebellar ataxia type 12
Also known as: SCA12
Publications
700
Trials
0
Interventional, condition-specific
Researchers
1,144
Distinct authors in sample
Gene link
PPP2R2B
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 12 (SCA12) is a very rare subtype of type I cerebellar (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar . Associated pyramidal and extrapyramidal signs and dementia have been reported.
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:0011439
- MeSH:C565790
- OMIM:604326
- UMLS:C1858501
- NCIT:C154316
Additional Mondo synonyms (1)
spinocerebellar ataxia type 12
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — PPP2R2B
- LiteraturePresent
700 matched papers (412 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (PPP2R2B).
GenCC classification: Strong.
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?
700
700 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.
700 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).
412 in the last 10 years · low confidence
Phrase hits: 700 · MeSH hits: 1
Who's working on it?
1,144
Distinct author names in 200 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.
- 01Srivastava AK23 papers · 2026
Neurology Department, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi 110029, India.
Papers in Europe PMC - 02Faruq M19 papers · 2025
Genomics and Molecular Medicine Council of Scientific and Industrial Research Institute of Genomics and Integrative Biology New Delhi India.
Papers in Europe PMC - 03Margolis RL12 papers · 2024
Professor, Psychiatry and Neurology, Director, Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University, Baltimore, Maryland
Papers in Europe PMC - 04Pandey S9 papers · 2026
Department of Neurology and Stroke Medicine Amrita Hospital Faridabad, Delhi NCR India.
Papers in Europe PMC - 05Choudhury S7 papers · 2026
Department of Neurology Institute of Neurosciences Kolkata Kolkata India.
Papers in Europe PMC - 06
- 07Kumar H7 papers · 2026
Department of Neurology Institute of Neurosciences Kolkata Kolkata India.
Papers in Europe PMC - 08Li PP7 papers · 2025
Department of Psychiatry and Behavioral Sciences, Division of Neurobiology, Johns Hopkins University School of Medicine, CMSC 8-121, 600 N. Wolfe St, Baltimore, MD, 21287, USA. ple5@jhmi.edu.
Papers in Europe PMC - 09Sharma P7 papers · 2025
Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110007, India.
Papers in Europe PMC - 10Kumar M6 papers · 2026
Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Mall Road, Delhi, 110007, India.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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 12" OR "SCA12"
MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia 12
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 12" OR "SCA12" OR "Spinocerebellar Ataxia 12" OR "PPP2R2B" OR "autosomal dominant cerebellar ataxia type I" OR "autosomal dominant cerebellar ataxia"
Recall-expansion terms: PPP2R2B, autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (700) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:21:35.614Z