ORPHA:497764
Spinocerebellar ataxia type 43
Also known as: SCA43
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
44
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
289
Distinct authors in sample
Gene link
MME
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 43 is a rare cerebellar type I disorder characterized by late adult-onset of slowly cerebellar , typically presenting with balance and gait disturbances, in association with axonal peripheral resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.
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:0014867
- OMIM:617018
- UMLS:C4310763
Additional Mondo synonyms (5)
MME autosomal dominant cerebellar ataxia · autosomal dominant cerebellar ataxia caused by mutation in MME · spinocerebellar ataxia 43 · spinocerebellar ataxia 43; SCA43 · spinocerebellar ataxia type 43
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
Limited — MME
- LiteraturePresent
44 matched papers (36 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?
Possibly — only limited evidence so far for MME.
GenCC classification: Limited.
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?
44
44 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.
44 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).
36 in the last 10 years · high confidence · 47.5th percentile (publications denominator)
Phrase hits: 44 · MeSH hits: 0
Who's working on it?
289
Distinct author names in 44 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.
- 01Chen S3 papers · 2022
Department of Neurology, Affiliated Hospital of Guiyang Medical University, Guiyang, China.
Papers in Europe PMC - 02Zhang X3 papers · 2023
Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 03Gao Y2 papers · 2023
Yunnan Drug Enforcement Commission Office, Kunming, 650032, Yunnan, China.
Papers in Europe PMC - 04Kennerson ML2 papers · 2024
Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.
Papers in Europe PMC - 05Paulson HL2 papers · 2018
Department of Neurology, University of Michigan, Ann Arbor, Michigan, 48109, USA.
Papers in Europe PMC - 06Wu Q2 papers · 2018
The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi 214122, China. 15861667099@163.com.
Papers in Europe PMC - 07Yang J2 papers · 2024
Departmen of Oncology, Weifang Traditional Chinese Hospital, Weifang, Shandong, China (mainland).
Papers in Europe PMC - 08Zhang J2 papers · 2019
Department of Neurology, Peking University People's Hospital, Beijing, China.
Papers in Europe PMC - 09
- 10Alimohamed MZ1 paper · 2022
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
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.
"Spinocerebellar ataxia type 43" OR "SCA43" OR "MME autosomal dominant cerebellar ataxia" OR "autosomal dominant cerebellar ataxia caused by mutation in MME" OR "spinocerebellar ataxia 43" OR "spinocerebellar ataxia 43; SCA43"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 43" OR "SCA43" OR "MME autosomal dominant cerebellar ataxia" OR "autosomal dominant cerebellar ataxia caused by mutation in MME" OR "spinocerebellar ataxia 43" OR "spinocerebellar ataxia 43; SCA43" OR "MME"
Recall-expansion terms: MME
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T17:36:32.754Z