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ORPHA:98767

Spinocerebellar ataxia type 11

low confidenceDisorder

Also known as: SCA11

Publications

902

Trials

0

Interventional, condition-specific

Researchers

1,401

Distinct authors in sample

Gene link

TTBK2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease that is characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.

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 (1)

spinocerebellar ataxia type 11

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — TTBK2

  2. LiteraturePresent

    902 matched papers (674 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Horizontal nystagmus; Dysphagia; Gait imbalance) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. 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 (TTBK2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0011464

  • Horizontal nystagmus
  • Dysphagia
  • Gait imbalance
  • Abnormal pyramidal sign
  • Gait disturbance

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

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_0011464

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

902

902 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.

902 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).

674 in the last 10 years · low confidence

Phrase hits: 257 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,401

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.

  1. 01
    Houlden H7 papers · 2023

    From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India.

    Papers in Europe PMC
  2. 02
    Goetz SC6 papers · 2023

    Developmental Biology Program, Sloan-Kettering Institute, 1275 York Avenue, New York, NY 10065, USA.

    Papers in Europe PMC
  3. 03
    Kraemer BC5 papers · 2020

    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, S182, 1660 South Columbian Way, Seattle, WA, 98108, USA. kraemerb@u.washington.edu.

    Papers in Europe PMC
  4. 04
    Synofzik M5 papers · 2025

    From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India.

    Papers in Europe PMC
  5. 05
    Bowie E4 papers · 2020

    University Program in Genetics and Genomics, Duke University, Durham, United States.

    Papers in Europe PMC
  6. 06
    Durr A4 papers · 2023

    Paris-Sorbonne Universités Université Pierre et Marie Curie UMR S1127 INSERM Paris France.

    Papers in Europe PMC
  7. 07
    Giunti P4 papers · 2017

    Department of Molecular Neuroscience Institute of Neurology University College London London United Kingdom.

    Papers in Europe PMC
  8. 08
    Liachko NF4 papers · 2020

    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, S182, 1660 South Columbian Way, Seattle, WA, 98108, USA.

    Papers in Europe PMC
  9. 09
    Anderson KV3 papers · 2018

    Developmental Biology Program, Sloan-Kettering Institute, 1275 York Avenue, New York, NY 10065, USA. Electronic address: k-anderson@sloankettering.edu.

    Papers in Europe PMC
  10. 10
    Bird TD3 papers · 2020

    Geriatrics Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, S182, 1660 South Columbian Way, Seattle, WA, 98108, USA.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 2026-07-27

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 11 — 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 11" OR "SCA11") OR (MESH:"Spinocerebellar Ataxia 11") OR ("TTBK2" OR "TTBK2 syndrome" OR "TTBK2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia 11

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

"Spinocerebellar ataxia type 11" OR "SCA11" OR "Spinocerebellar Ataxia 11"

Study-type breakdown: 0 interventional · 0 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 (902) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T01:37:55.530Z