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ORPHA:98759

Spinocerebellar ataxia type 17

low confidenceDisorder

Also known as: HDL4 · Huntington disease-like 4 · SCA17

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,741

Trials

1

Interventional, condition-specific

Researchers

1,292

Distinct authors in sample

Gene link

TBP

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — TBP

  2. LiteraturePresent

    1,741 matched papers (973 in last 10 years) Source

  3. Phenotype characterisedPresent

    54 HPO annotations (e.g. Torticollis; Cerebellar atrophy; Parkinsonism) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

54

Associated phenotypes · MONDO:0011781

  • Torticollis
  • Cerebellar atrophy
  • Parkinsonism
  • Involuntary movements
  • Gait disturbance

Showing 5 of 54 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

Model associations linked to this Mondo ID

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)

2 associated chemicals · 155 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • genipin · therapeutic
  • Resveratrol · therapeutic

Pathways: Ubiquinone and other terpenoid-quinone biosynthesis; Oxidative phosphorylation; Porphyrin and chlorophyll metabolism; Metabolic pathways; Basal transcription factors; Spliceosome; Protein export; MAPK signaling pathway

MyDisease.info · MONDO:0011781

Literature

Is anyone studying this?

1,741

1,741 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.

1,741 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).

973 in the last 10 years · low confidence

Phrase hits: 1,401 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Lee-Chen GJ11 papers · 2020

    Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.

    Papers in Europe PMC
  2. 02
    Hsieh-Li HM10 papers · 2024

    Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.

    Papers in Europe PMC
  3. 03
    Chen CM9 papers · 2024

    Department of Neurology, Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Taipei, Taiwan.

    Papers in Europe PMC
  4. 04
    Nguyen HP8 papers · 2022

    Institute of Medical Genetics and Applied Genomics University of Tübingen, 72076 Tübingen, Germany.

    Papers in Europe PMC
  5. 05
    Li 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
  6. 06
    Li 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
  7. 07
    Su MT6 papers · 2018

    Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.

    Papers in Europe PMC
  8. 08
    Tang B6 papers · 2026

    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  9. 09
    Chang KH5 papers · 2024

    Department of Neurology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taipei, Taiwan.

    Papers in Europe PMC
  10. 10
    Yang 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

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 Spinocerebellar ataxia type 17 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Olivopontocerebellar Atrophy V" OR MESH:"Spinocerebellar Ataxia 17" OR MESH:"[OBSOLETE] Cerebelloparenchymal Disorder II") OR ("TBP syndrome" OR "TBP-related")

Run this search on Europe PMC

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"

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; 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 (1741) 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