ORPHA:79136
Episodic ataxia type 4
Also known as: PATX · Periodic vestibulocerebellar ataxia
Clinical definition (Orphanet)
A rare form of episodic characterized by late-onset episodic , recurrent attacks of vertigo, and diplopia.
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?
22
22 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.
22 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).
13 in the last 10 years · medium confidence · 35th percentile (publications denominator)
Is a treatment being tested?
5
trials for this specific condition
5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
5 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 82.7th percentile).
medium confidence · 82.7th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
93
Distinct author names in 22 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Vance JM3 papers · 2021
Department of Human Genetics, Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Papers in Europe PMC - 02
- 03Gazulla J2 papers · 2021
Department of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Papers in Europe PMC - 04Akaaboune SR1 paper · 2024
Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI, United States.
Papers in Europe PMC - 05Allingham RR1 paper · 1996Papers in Europe PMC
- 06Angeli S1 paper · 2021
Department of Otolaryngology, University of Miami, Coral Gables, FL, United States.
Papers in Europe PMC - 07Bargary G1 paper · 2024
Department of Psychology, University of Cambridge, Downing Street, Cambridge, United Kingdom.
Papers in Europe PMC - 08Benda J1 paper · 2021
Institute of Neurobiology, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 09Berciano J1 paper · 2021
Department of Neurology, Hospital Universitario Marqués de Valdecilla (IDIVAL), University of Cantabria, CIBERNED, Santander, Spain.
Papers in Europe PMC - 10Bertini E1 paper · 2020
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, 00146 Rome, Italy.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
4 observational studies match 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.
Recruiting or not-yet-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.
"Episodic ataxia type 4" OR "Periodic vestibulocerebellar ataxia"
MeSH descriptor terms unioned into the query: Episodic Ataxia, Type 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Episodic ataxia type 4" OR "Periodic vestibulocerebellar ataxia" OR "Episodic Ataxia, Type 4" OR "hereditary episodic ataxia" OR "hereditary ataxia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C564698 OMIM:606552 UMLS:C1847843
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PATX
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus