ORPHA:95434
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Also known as: SCAR4 · SCASI
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
176
72.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,123
Distinct authors in sample
Gene link
VPS13D
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare characterized by a cerebellar associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with gait, trunk and limb with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.
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:0011811
- MeSH:C537310
- OMIM:607317
- UMLS:C1846492
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 — VPS13D
- LiteraturePresent
176 matched papers (138 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 (VPS13D).
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?
176
176 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.
176 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).
138 in the last 10 years · high confidence · 72.3th percentile (publications denominator)
Phrase hits: 176 · MeSH hits: 0
Who's working on it?
1,123
Distinct author names in 176 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.
- 01Leigh RJ6 papers · 2013Papers in Europe PMC
- 02Zhang Y5 papers · 2025
MOE Key Laboratory of Bioinformatics, Center for Plant Biology, Center for Synthetic and Systems Biology and Tsinghua-Peking Joint Center for Life Sciences, School of Life Sciences, Tsinghua University, Beijing, 100084, China.
Papers in Europe PMC - 03Baehrecke EH4 papers · 2025
Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA.
Papers in Europe PMC - 04Pavan FR4 papers · 2024
Tuberculosis Research Laboratory, School of Pharmaceutical Science, Sao Paulo State University (UNESP), Araraquara, 14800-903, Brazil.
Papers in Europe PMC - 05Serra A4 papers · 2013
Veterans Affairs Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Papers in Europe PMC - 06Wang Y4 papers · 2026
Guangdong Engineering Research Center for Translation of Medical 3D Printing Application, Guangdong Provincial Key Laboratory of Medical Biomechanics, National Key Discipline of Human Anatomy, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 07Alkema MJ3 papers · 2025
Department of Neurobiology, University of Massachusetts Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Papers in Europe PMC - 08Batista AA3 papers · 2018
Departamento de Química, Universidade Federal de São Carlos, São Carlos, São Paulo 13565-905, Brazil.
Papers in Europe PMC - 09Chorilli M3 papers · 2024
School of Pharmaceutical Science, Sao Paulo State University (UNESP), Araraquara, 14800-903, Brazil.
Papers in Europe PMC - 10Inoue M3 papers · 2024
Department of Gastroenterology, Japanese Red Cross Okayama Hospital, Japan.
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.
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.
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-movement disorder syndrome" OR "SCAR4" OR "SCASI"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cerebellar ataxia-movement disorder syndrome" OR "SCAR4" OR "SCASI" OR "Spinocerebellar ataxia, autosomal recessive 4" OR "VPS13D" OR "autosomal recessive syndromic cerebellar ataxia"
Recall-expansion terms: VPS13D, autosomal recessive syndromic cerebellar ataxia
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, mesh, 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
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:43:22.652Z