ORPHA:98759
Spinocerebellar ataxia type 17
Also known as: HDL4 · Huntington disease-like 4 · SCA17
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
1,401
Trials
1
Interventional, condition-specific
Researchers
1,292
Distinct authors in sample
Gene link
TBP
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 17 (SCA17) is a rare subtype of type I cerebellar (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and .
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:0011781
- MeSH:C563505
- MeSH:C564616
- MeSH:C565866
- OMIM:164700
- OMIM:213100
- OMIM:607136
- UMLS:C1846707
- NCIT:C179861
Additional Mondo synonyms (9)
CPD2 · OPCA V · OPCA with dementia and extrapyramidal signs · SCA 17 · cerebelloparenchymal disorder II · olivopontocerebellar atrophy 5 · olivopontocerebellar atrophy type 5 · spinocerebellar ataxia 17 · spinocerebellar ataxia type 17
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 — TBP
- LiteraturePresent
1,401 matched papers (853 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
1 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?
Yes — we know a specific gene responsible (TBP).
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?
1,401
1,401 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.
1,401 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).
853 in the last 10 years · low confidence
Phrase hits: 1,401 · MeSH hits: 0
Who's working on it?
1,292
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.
- 01Lee-Chen GJ11 papers · 2020
Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Papers in Europe PMC - 02Hsieh-Li HM10 papers · 2024
Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Papers in Europe PMC - 03Chen CM9 papers · 2024
Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan.
Papers in Europe PMC - 04Nguyen HP8 papers · 2022
Institute of Medical Genetics and Applied Genomics University of Tübingen, 72076 Tübingen, Germany.
Papers in Europe PMC - 05Li S7 papers · 2020
Guangdong-Hongkong-Macau Institute of CNS Regeneration, Ministry of Education CNS Regeneration Collaborative Joint Laboratory, Jinan University, Guangzhou, China. lishihualis@jnu.edu.cn.
Papers in Europe PMC - 06Li XJ7 papers · 2020
Guangdong-Hongkong-Macau Institute of CNS Regeneration, Ministry of Education CNS Regeneration Collaborative Joint Laboratory, Jinan University, Guangzhou, China.
Papers in Europe PMC - 07Su MT6 papers · 2018
Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.
Papers in Europe PMC - 08Tang B6 papers · 2026
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 09Chang KH5 papers · 2024
Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan.
Papers in Europe PMC - 10Yang S5 papers · 2020
Guangdong-Hongkong-Macau Institute of CNS Regeneration, Ministry of Education CNS Regeneration Collaborative Joint Laboratory, Jinan University, Guangzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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 17" OR "Huntington disease-like 4" OR "SCA17" OR "OPCA V" OR "OPCA with dementia and extrapyramidal signs" OR "SCA 17" OR "cerebelloparenchymal disorder II" OR "olivopontocerebellar atrophy 5" OR "olivopontocerebellar atrophy type 5" OR "spinocerebellar ataxia 17"
MeSH descriptor terms unioned into the query: Olivopontocerebellar Atrophy V; Spinocerebellar Ataxia 17; [OBSOLETE] Cerebelloparenchymal Disorder II
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 17" OR "Huntington disease-like 4" OR "SCA17" OR "OPCA V" OR "OPCA with dementia and extrapyramidal signs" OR "SCA 17" OR "cerebelloparenchymal disorder II" OR "olivopontocerebellar atrophy 5" OR "olivopontocerebellar atrophy type 5" OR "spinocerebellar ataxia 17" OR "Olivopontocerebellar Atrophy V" OR "[OBSOLETE] Cerebelloparenchymal Disorder II" OR "TBP"
Recall-expansion terms: TBP
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HDL4; CPD2
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1401) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:21:02.715Z