ORPHA:94124
Spinocerebellar ataxia with axonal neuropathy type 1
Also known as: SCAN1
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
946
Trials
0
Interventional, condition-specific
Researchers
1,213
Distinct authors in sample
Gene link
TDP1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar with axonal type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly cerebellar . Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral , stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include , mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
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:0011801
- MeSH:C537313
- OMIM:607250
- UMLS:C4759870
Additional Mondo synonyms (3)
Spinocerebellar Ataxia with Axonal Neuropathy · spinocerebellar ataxia type 1 with axonal neuropathy · spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — TDP1
- LiteraturePresent
946 matched papers (604 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?
Yes — we know a specific gene responsible (TDP1).
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?
946
946 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=5449) is 41.
946 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).
604 in the last 10 years · low confidence
Phrase hits: 946 · MeSH hits: 0
Who's working on it?
1,213
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.
- 01Lavrik OI10 papers · 2026
Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.
Papers in Europe PMC - 02Dyrkheeva NS9 papers · 2026
Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.
Papers in Europe PMC - 03El-Khamisy SF9 papers · 2021
Department of Molecular Biology and Biotechnology, Firth Court, University of Sheffield, Sheffield S10 2TN, UK.
Papers in Europe PMC - 04Zakharenko AL9 papers · 2026
Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.
Papers in Europe PMC - 05Pommier Y8 papers · 2020
Developmental Therapeutics Branch and Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Building 37, Room 5068, Bethesda, MD 20892-4255, USA.
Papers in Europe PMC - 06Boerkoel CF6 papers · 2018
BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada. cboerkoel@gmail.com.
Papers in Europe PMC - 07Takashima H6 papers · 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
Papers in Europe PMC - 08Caldecott KW5 papers · 2020
Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague 4, 142 20, Czech Republic.
Papers in Europe PMC - 09Chernyshova IA5 papers · 2026
Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.
Papers in Europe PMC - 10McKinnon PJ5 papers · 2017
Department of Genetics and Tumour Cell Biology, St Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, Tennessee 38105, USA. peter.mckinnon@stjude.org
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.
low 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.
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.
"Spinocerebellar ataxia with axonal neuropathy type 1" OR "SCAN1" OR "Spinocerebellar Ataxia with Axonal Neuropathy" OR "spinocerebellar ataxia type 1 with axonal neuropathy" OR "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia with axonal neuropathy type 1" OR "SCAN1" OR "Spinocerebellar Ataxia with Axonal Neuropathy" OR "spinocerebellar ataxia type 1 with axonal neuropathy" OR "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" OR "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" OR "TDP1"
Recall-expansion terms: TDP1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (946) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:40:05.095Z