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ORPHA:88644

Autosomal recessive ataxia, Beauce type

low confidenceDisorder

Also known as: ARCA1 · Autosomal recessive cerebellar ataxia type 1 · SCAR8

Publications

4,617

Trials

1

Interventional, condition-specific

Researchers

1,350

Distinct authors in sample

Gene link

SYNE1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterised by a slowly pure cerebellar associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is . Positional cloning has led to the identification of several <i<SYNE1 gene mutations.

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 (2)

autosomal recessive cerebellar ataxia type 1 · spinocerebellar ataxia, autosomal recessive 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SYNE1

  2. LiteraturePresent

    4,617 matched papers (3,660 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Short attention span; Spasticity; Motor delay) 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 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 (SYNE1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0012549

  • Short attention span
  • Spasticity
  • Motor delay
  • Diminished deep tendon reflex
  • Lower limb spasticity

Showing 5 of 60 — 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 2026-07-29

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,617

4,617 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.

4,617 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).

3,660 in the last 10 years · low confidence

Phrase hits: 269 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,350

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
    Schmahmann JD7 papers · 2026

    Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA. jschmahmann@mgh.harvard.edu.

    Papers in Europe PMC
  2. 02
    Dupré N5 papers · 2023

    Department of Medicine, Faculty of Medicine, Université Laval, Ferdinand Vandry Pavillon, 1050 Av. de la Médecine, Quebec City, Quebec, G1V 0A6, Canada.

    Papers in Europe PMC
  3. 03
    Fey PD5 papers · 2024

    University of Nebraska Medical Center, Department of Pathology and Microbiology, Omaha, Nebraska, USA rpowers3@unl.edu pfey@unmc.edu.

    Papers in Europe PMC
  4. 04
    Hodzic D5 papers · 2018

    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, 660 S. Euclid Avenue, St Louis, MO 63110, USA. Electronic address: hodzicd@vision.wustl.edu.

    Papers in Europe PMC
  5. 05
    Jackson M5 papers · 2021

    Centre for Integrative Physiology, University of Edinburgh, Hugh Robson Building, George Square, Edinburgh, EH8 9XD, UK.

    Papers in Europe PMC
  6. 06
    Razafsky D5 papers · 2018

    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO 63110, USA.

    Papers in Europe PMC
  7. 07
    Rouleau GA5 papers · 2021

    McGill University, Department of Human Genetics, Montreal, Canada.

    Papers in Europe PMC
  8. 08
    Brais B4 papers · 2023

    Departments of Neurology and Neurosurgery and Human Genetics, Montreal Neurological Institute-Hospital, Faculty of Medicine, McGill University, University Street, Montreal, Quebec, 3801H3A 2B4, Canada.

    Papers in Europe PMC
  9. 09
    Gupta AS4 papers · 2024

    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  10. 10
    Stephen CD4 papers · 2024

    Ataxia Center and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 100 Cambridge St, Boston, MA, USA.

    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 Autosomal recessive ataxia, Beauce type — 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.

("Autosomal recessive ataxia, Beauce type" OR "ARCA1" OR "Autosomal recessive cerebellar ataxia type 1" OR "SCAR8" OR "spinocerebellar ataxia, autosomal recessive type 8") OR ("SYNE1" OR "SYNE1 syndrome" OR "SYNE1-related")

Run this search on Europe PMC

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

"Autosomal recessive ataxia, Beauce type" OR "ARCA1" OR "Autosomal recessive cerebellar ataxia type 1" OR "SCAR8" OR "spinocerebellar ataxia, autosomal recessive type 8"

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: ok — strategies attempted: phrase; with hits: phrase

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 (4617) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:24:40.661Z