ORPHA:284332
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Also known as: Autosomal recessive spinocerebellar ataxia type 6 · SCAR6
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
90
59.8th percentile
Trials
0
Interventional, condition-specific
Researchers
622
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, cerebellar disease characterized by nonprogressive cerebellar , with onset in infancy, manifesting with delayed motor and speech development, gait , dysmetria, , increased deep tendon reflexes, and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.
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:0011950
- MeSH:C537312
- OMIM:608029
- UMLS:C1842676
Additional Mondo synonyms (1)
autosomal recessive spinocerebellar ataxia type 6
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
90 matched papers (69 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
90
90 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
90 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).
69 in the last 10 years · high confidence · 59.8th percentile (publications denominator)
Phrase hits: 90 · MeSH hits: 0
Who's working on it?
622
Distinct author names in 90 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.
- 01Batista AA2 papers · 2018
Department of Chemistry, Universidade Federal de São Carlos, São Carlos, Brazil.
Papers in Europe PMC - 02Delague V2 papers · 2015
2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France grace.yoon@utoronto.ca valerie.delague@univ-amu.fr.
Papers in Europe PMC - 03Hasan M2 papers · 2019
BRAC James P Grant School of Public Health, BRAC University, Dhaka, Bangladesh.
Papers in Europe PMC - 04Liu Y2 papers · 2025
Department of Ultrasound, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 05Mégarbané A2 papers · 2015
18 Unité de Génétique Médicale and Laboratoire Associé Inserm UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon 19 Institut Jérôme Lejeune, Paris, France.
Papers in Europe PMC - 06Pavan FR2 papers · 2018
School of Pharmaceutical Sciences, Universidade Estadual Paulista, Araraquara, Brazil.
Papers in Europe PMC - 07Pennell DJ2 papers · 2026
CMR Unit, Royal Brompton Hospital and NIHR Biomedical Research Unit, Royal Brompton and Harefield Hospitals, London, United Kingdom.
Papers in Europe PMC - 08Xu R2 papers · 2025
Department of Ultrasound, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 09
- 10Zhang X2 papers · 2025
Department of Orthopedics, The First Affiliated Hospital of Lanzhou University, istrict, Lanzhou, China.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 6" OR "SCAR6"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive 6
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 6" OR "SCAR6" OR "Spinocerebellar ataxia, autosomal recessive 6"
Study-type breakdown: 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:03:13.198Z