ORPHA:458803
Spinocerebellar ataxia type 42
Also known as: SCA42
Clinical definition (Orphanet)
A rare, cerebellar characterized by pure and slowly cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural 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.
Is anyone studying this?
96
96 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=183) is 38.
96 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
93 in the last 10 years · high confidence · 65.8th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CACNA1G).
GenCC classification: Definitive.
Who's working on it?
763
Distinct author names in 96 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.
- 01Shakkottai VG4 papers · 2023
Department of Neurology, University of Michigan, Ann Arbor, Michigan, 48109, USA.
Papers in Europe PMC - 02Lory P3 papers · 2025
Institut de Génomique Fonctionnelle, CNRS, INSERM, University Montpellier, 141, rue de la Cardonille, 34094, Montpellier, France. philippe.lory@igf.cnrs.fr.
Papers in Europe PMC - 03Monteil A3 papers · 2025
Institut de Génomique Fonctionnelle, CNRS, INSERM, University Montpellier, 141, rue de la Cardonille, 34094, Montpellier, France.
Papers in Europe PMC - 04Nicole S3 papers · 2025
Institut de Génomique Fonctionnelle, CNRS, INSERM, University Montpellier, 141, rue de la Cardonille, 34094, Montpellier, France.
Papers in Europe PMC - 05Weiss N3 papers · 2025
Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha, Czech Republic weiss@uochb.cas.cz zamponi@ucalgary.ca.
Papers in Europe PMC - 06Bernat C2 papers · 2025
IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.
Papers in Europe PMC - 07Boulali N2 papers · 2025
IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.
Papers in Europe PMC - 08Burglen L2 papers · 2025
Developmental Brain Disorders, Laboratory, Imagine Institute, Université Paris Cité, INSERM UMR1163, Paris, France.
Papers in Europe PMC - 09Bushart DD2 papers · 2022
Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor MI, USA.
Papers in Europe PMC - 10Cantagrel V2 papers · 2025
Developmental Brain Disorders, Laboratory, Imagine Institute, Université Paris Cité, INSERM UMR1163, Paris, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
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 below but are not added to the query string.
"Spinocerebellar ataxia type 42" OR "SCA42" OR "spinocerebellar ataxia 42"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 42" OR "SCA42" OR "spinocerebellar ataxia 42" OR "CACNA1G" OR "autosomal dominant cerebellar ataxia type III" OR "autosomal dominant cerebellar ataxia"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:616795 UMLS:C4225205 NCIT:C171269
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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