ORPHA:98760
Spinocerebellar ataxia type 8
Also known as: SCA8
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
366
77.1th percentile
Trials
2
Interventional, condition-specific
Researchers
1,010
Distinct authors in sample
Gene link
ATXN8, ATXN8OS
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 8 (SCA8) is a subtype of type I cerebellar (ADCA type I) characterized by cerebellar and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012116
- OMIM:608768
- UMLS:C1837454
Additional Mondo synonyms (1)
spinocerebellar ataxia type 8
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
Moderate — ATXN8, ATXN8OS
- LiteraturePresent
366 matched papers (181 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
2 matched on ClinicalTrials.gov
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?
Probably — there is moderate evidence for ATXN8, ATXN8OS.
GenCC classification: Moderate.
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?
366
366 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
366 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).
181 in the last 10 years · medium confidence · 77.1th percentile (publications denominator)
Phrase hits: 366 · MeSH hits: 0
Who's working on it?
1,010
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.
- 01Ranum LP19 papers · 2026
Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA; Department of Neurology, University of Florida, Gainesville, FL 32610, USA; Genetics Institute, University of Florida, Gainesville, FL 32610, USA. Electronic address: ranum@ufl.edu.
Papers in Europe PMC - 02Cleary JD7 papers · 2026
The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.
Papers in Europe PMC - 03Ikeda Y7 papers · 2021
Department of Neurology, Gunma University School of Medicine, Maebashi, Japan. yikeda@akagi.sb.gunma-u.ac.jp
Papers in Europe PMC - 04Ranum LPW7 papers · 2025
Center for NeuroGenetics, College of Medicine, University of Florida, USA; Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, USA; Genetics Institute, University of Florida, USA; McKnight Brain Institute, University of Florida, USA; Norman Fixel Institute for Neurological Diseases, University of Florida, USA. Electronic address: ranum@ufl.edu.
Papers in Europe PMC - 05Zu T7 papers · 2021
Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA.
Papers in Europe PMC - 06Ashizawa T6 papers · 2021
Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.
Papers in Europe PMC - 07Todd PK6 papers · 2026
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA. petertod@med.umich.edu
Papers in Europe PMC - 08Day JW5 papers · 2012
Departments of Neurology and Genetics, University of Minnesota, Minneapolis, USA.
Papers in Europe PMC - 09Ebner TJ5 papers · 2025
Department of Neuroscience, University of Minnesota, 2001 Sixth Street SE, Minneapolis, MN 55455, USA. ebner001@umn.edu
Papers in Europe PMC - 10Hirano M5 papers · 2026
Department of Neurology (M.H., M.S., K.S., and S.K.), Kindai University Faculty of Medicine, Osakasayama, Japan; and Department of Neurology (M.H., C.I., and Y.N.), Kindai University Sakai Hospital, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 8"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 8" OR "ATXN8" OR "ATXN8OS"
Recall-expansion terms: ATXN8, ATXN8OS
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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SCA8
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 2026-07-27T05:21:12.396Z