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ORPHA:98761

Spinocerebellar ataxia type 10

low confidenceDisorder

Also known as: SCA10

Publications

1,230

Trials

2

Interventional, condition-specific

Researchers

1,152

Distinct authors in sample

Gene link

ATXN10

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 10 (SCA10) is a subtype of type I cerebellar (ADCA type I). It is characterized by slowly cerebellar syndrome and , sometimes mild pyramidal signs, peripheral and neuropsychological disturbances.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

spinocerebellar ataxia type 10

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

    Strong — ATXN10

  2. LiteraturePresent

    1,230 matched papers (795 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Gait ataxia; Intention tremor; EEG with generalized epileptiform discharges) Source

  4. Animal modelPresent

    1 genotype model (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

    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?

Yes — we know a specific gene responsible (ATXN10).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0011330

  • Gait ataxia
  • Intention tremor
  • EEG with generalized epileptiform discharges
  • Kinetic tremor
  • Aggressive behavior

Showing 5 of 57 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

1

Drugs / clinical candidates · MONDO_0011330

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,230

1,230 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.

1,230 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).

795 in the last 10 years · low confidence

Phrase hits: 773 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,152

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
    Ashizawa T50 papers · 2026

    Neuroscience Research Program, Houston Methodist Research Institute, Houston, TX, USA.

    Papers in Europe PMC
  2. 02
    Teive HAG28 papers · 2026

    Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, Brazil.

    Papers in Europe PMC
  3. 03
    Raskin S22 papers · 2026

    Genetika Laboratory, Alameda Augusto Stellfeld, Curitiba, Brazil.

    Papers in Europe PMC
  4. 04
    Munhoz RP18 papers · 2024

    Toronto Western Hospital, Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, University Health Network, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Camargo CHF15 papers · 2026

    5Neurological Diseases Group, Graduate Program of Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR Brazil.

    Papers in Europe PMC
  6. 06
    Cornejo-Olivas M13 papers · 2026

    Instituto Nacional de Ciencias Neurologicas, Jr. Ancash 1271, Cercado de Lima 15003, Lima, Peru.

    Papers in Europe PMC
  7. 07
    McFarland KN13 papers · 2024

    McKnight Brain Institute, Department of Neurology and Center for Translational Research in Neurodegenerative Disease, University of Florida, College of Medicine, Gainesville, FL 32610.

    Papers in Europe PMC
  8. 08
    Moscovich M12 papers · 2024

    3Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.

    Papers in Europe PMC
  9. 09
    Teive HA12 papers · 2023

    Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, Curitiba, PR, Brazil. hagteive@mps.com.br

    Papers in Europe PMC
  10. 10
    Arruda WO11 papers · 2021

    Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil.

    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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Observational and natural-history studies

2 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.

Open the complete matched 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 10 — 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 10" OR "SCA10") OR (MESH:"Spinocerebellar Ataxia 10") OR ("ATXN10" OR "ATXN10 syndrome" OR "ATXN10-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia 10

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Spinocerebellar ataxia type 10" OR "SCA10" OR "Spinocerebellar Ataxia 10"

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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (1230) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:21:25.521Z