ORPHA:412057
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Also known as: SCAR16 · Spinocerebellar ataxia autosomal recessive type 16
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
136
69.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,026
Distinct authors in sample
Gene link
STUB1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare characterized by truncal and limb resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory , cognitive impairment and accelerated ageing have also been associated.
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:0014339
- OMIM:615768
- UMLS:C5190574
Additional Mondo synonyms (6)
STUB1 autosomal recessive cerebellar ataxia · autosomal recessive cerebellar ataxia caused by mutation in STUB1 · autosomal recessive spinocerebellar ataxia 16 · autosomal recessive spinocerebellar ataxia type 16 · spinocerebellar ataxia autosomal recessive type 16 · spinocerebellar ataxia, autosomal recessive type 16
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — STUB1
- LiteraturePresent
136 matched papers (123 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 trialPartial
None under the specific name; 2 for broader category autosomal recessive cerebellar ataxia
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 (STUB1).
GenCC classification: Strong.
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?
136
136 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.
136 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).
123 in the last 10 years · medium confidence · 69.9th percentile (publications denominator)
Phrase hits: 136 · MeSH hits: 0
Who's working on it?
1,026
Distinct author names in 136 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.
- 01De Michele G11 papers · 2023
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
Papers in Europe PMC - 02Schisler JC11 papers · 2025
McAllister Heart Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Papers in Europe PMC - 03Synofzik M8 papers · 2025
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 04Filla A6 papers · 2023
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
Papers in Europe PMC - 05Patterson C6 papers · 2019
The Office of the Chancellor, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America.
Papers in Europe PMC - 06Santorelli FM6 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 07Zhang S6 papers · 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000, Zhengzhou, Henan, China.
Papers in Europe PMC - 08Galatolo D5 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 09Sanchez-Hodge R5 papers · 2021
Computational Medicine Program, Department of Pharmacology, Department of Pathology and Lab Medicine, McAllister Heart Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Papers in Europe PMC - 10Scaglione KM5 papers · 2022
Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina 27710.
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). 2 trials are registered for autosomal recessive cerebellar ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
2 interventional trials matched autosomal recessive cerebellar ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal recessive cerebellar ataxia
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04261127·RECRUITING·Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Conditions: Autosomal Recessive Cerebellar Ataxia·Matched via name phrase
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Autosomal recessive cerebellar ataxia due to STUB1 deficiency" OR "SCAR16" OR "Spinocerebellar ataxia autosomal recessive type 16" OR "STUB1 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in STUB1" OR "autosomal recessive spinocerebellar ataxia 16" OR "autosomal recessive spinocerebellar ataxia type 16" OR "spinocerebellar ataxia, autosomal recessive type 16"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cerebellar ataxia due to STUB1 deficiency" OR "SCAR16" OR "Spinocerebellar ataxia autosomal recessive type 16" OR "STUB1 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in STUB1" OR "autosomal recessive spinocerebellar ataxia 16" OR "autosomal recessive spinocerebellar ataxia type 16" OR "spinocerebellar ataxia, autosomal recessive type 16" OR "STUB1"
Recall-expansion terms: STUB1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive cerebellar ataxia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "SCAR16" also appears on ORPHA:98769
Ingested 2026-07-27T15:43:00.212Z