ORPHA:352403
Spectrin-associated autosomal recessive cerebellar ataxia
Also known as: Autosomal recessive spinocerebellar ataxia type 14 · Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · SCAR14 · SPARCA · SPARCA1 · Spectrin-associated autosomal recessive cerebellar ataxia type 1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
378
82.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,355
Distinct authors in sample
Gene link
SPTBN2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spectrin-associated cerebellar is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait with limb dysmetria and dysdiadochokinesia, mild to severe , development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).
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:0014159
- OMIM:615386
- UMLS:C4706415
Additional Mondo synonyms (8)
Ataxie spinocérébelleuse à début infantile avec retard psychomoteur · SPTBN2 autosomal recessive cerebellar ataxia · autosomal recessive cerebellar ataxia caused by mutation in SPTBN2 · autosomal recessive cerebellar ataxia-cognitive defect syndrome · autosomal recessive spinocerebellar ataxia type 14 · infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · spectrin-associated autosomal recessive cerebellar ataxia type 1 · spinocerebellar ataxia, autosomal recessive type 14
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
Definitive — SPTBN2
- LiteraturePresent
378 matched papers (259 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 (SPTBN2).
GenCC classification: Definitive.
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?
378
378 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.
378 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).
259 in the last 10 years · medium confidence · 82.5th percentile (publications denominator)
Phrase hits: 378 · MeSH hits: 0
Who's working on it?
1,355
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.
- 01Synofzik M12 papers · 2025
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 02Anheim M7 papers · 2020
Service de neurogénétique, hôpital de la Pitié-Salpêtrière, 75651 Paris, France. mathieu.anheim@psl.aphp.fr
Papers in Europe PMC - 03Salles MJS7 papers · 2025
Department of General Biology, State University of Londrina (UEL), Km 380, Celso Garcia Cid Road, Londrina, 86057-970, Brazil.
Papers in Europe PMC - 04Gagnon C6 papers · 2025
Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Québec, Canada.
Papers in Europe PMC - 05Pedroso JL6 papers · 2025
Department of Neurology, Ataxia Unit Universidade Federal de São Paulo São Paulo Brazil.
Papers in Europe PMC - 06Brais B5 papers · 2024
Department of Human Genetics, McGill University, Montréal, QC, Canada.
Papers in Europe PMC - 07O'Brart D5 papers · 2024
Department of Ophthalmology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Papers in Europe PMC - 08Santorelli FM5 papers · 2025
IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
Papers in Europe PMC - 09Schüle R5 papers · 2025
Department of Neurodegenerative Diseases, Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 10Wang S5 papers · 2025
Department of Neurology, Xiangya Hospital,Department of Anatomy & Neurobiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, andDepartment of Anatomy, Qing Dao University, QingDao, Shandong, 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). 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
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.
"Spectrin-associated autosomal recessive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 14" OR "Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" OR "SCAR14" OR "SPARCA" OR "SPARCA1" OR "Spectrin-associated autosomal recessive cerebellar ataxia type 1" OR "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" OR "SPTBN2 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" OR "autosomal recessive cerebellar ataxia-cognitive defect syndrome" OR "spinocerebellar ataxia, autosomal recessive type 14"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spectrin-associated autosomal recessive cerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 14" OR "Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" OR "SCAR14" OR "SPARCA" OR "SPARCA1" OR "Spectrin-associated autosomal recessive cerebellar ataxia type 1" OR "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" OR "SPTBN2 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" OR "autosomal recessive cerebellar ataxia-cognitive defect syndrome" OR "spinocerebellar ataxia, autosomal recessive type 14" OR "SPTBN2"
Recall-expansion terms: SPTBN2
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
- No label/synonym collisions with other diseases in this corpus
- Publication count (378) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T14:11:32.070Z