RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:97

Familial paroxysmal ataxia

high confidenceDisorder

Also known as: Episodic ataxia type 2

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

873

88th percentile

Trials

2

Interventional, condition-specific

Researchers

1,074

Distinct authors in sample

Gene link

CACNA1A

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of episodic (EA) characterized by paroxysmal episodes of lasting hours, with interictal nystagmus and mildly .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

CACNA1A hereditary episodic ataxia · episodic ataxia type 2 · hereditary episodic ataxia caused by mutation in CACNA1A

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CACNA1A

  2. LiteraturePresent

    873 matched papers (400 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (CACNA1A).

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?

873

873 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.

873 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).

400 in the last 10 years · high confidence · 88th percentile (publications denominator)

Phrase hits: 873 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,074

Distinct author names in 200 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.

  1. 01
    Strupp M15 papers · 2026

    Department of Neurology and German Centre for Vertigo and Balance Disorders, University of Munich Hospital, Campus Großhadern, Munich, Germany.

    Papers in Europe PMC
  2. 02
    Boesch S10 papers · 2026

    Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria. sylvia.boesch@i-med.ac.at.

    Papers in Europe PMC
  3. 03
    Indelicato E10 papers · 2026

    Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

    Papers in Europe PMC
  4. 04
    Feil K8 papers · 2026

    Neurologische Klinik und Deutsches Zentrum für Schwindel- und Gleichgewichtsstörungen, Klinikum der Universität München.

    Papers in Europe PMC
  5. 05
    Kim HJ8 papers · 2026

    Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam, Korea.

    Papers in Europe PMC
  6. 06
    Kim JS7 papers · 2026

    Dizziness Center, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. jisookim@snu.ac.kr.

    Papers in Europe PMC
  7. 07
    Nachbauer W7 papers · 2026

    Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

    Papers in Europe PMC
  8. 08
    Kim S6 papers · 2026

    Department of Neurology, Seoul National University Hospital, Seoul, Korea.

    Papers in Europe PMC
  9. 09
    Amprosi M5 papers · 2026

    Center for Rare Movement Disorders, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

    Papers in Europe PMC
  10. 10
    Hommersom MP5 papers · 2026

    Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen 6500 HB, the Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-26

This 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.

"Familial paroxysmal ataxia" OR "Episodic ataxia type 2" OR "CACNA1A hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in CACNA1A"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial paroxysmal ataxia" OR "Episodic ataxia type 2" OR "CACNA1A hereditary episodic ataxia" OR "hereditary episodic ataxia caused by mutation in CACNA1A" OR "CACNA1A"

Recall-expansion terms: CACNA1A

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: 2 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 2026-07-26T12:24:48.107Z