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ORPHA:240094

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

high confidenceSubtype of disorder

Also known as: PSP-PAGF · PSP-pure akinesia with gait freezing

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

Publications

75

55.8th percentile

Trials

0

Interventional, condition-specific

Researchers

370

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

An atypical variant of supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    75 matched papers (57 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 trialPartial

    None under the specific name; 95 for broader category progressive supranuclear palsy

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

75

75 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.

75 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).

57 in the last 10 years · high confidence · 55.8th percentile (publications denominator)

Phrase hits: 75 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

370

Distinct author names in 75 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.

  1. 01
    Litvan I6 papers · 2022

    UC San Diego Department of Neurosciences, Parkinson and Other Movement Disorder Center, San Diego, CA, United States.

    Papers in Europe PMC
  2. 02
    Dickson DW5 papers · 2022

    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

    Papers in Europe PMC
  3. 03
    Josephs KA5 papers · 2022

    Behavioural Neurology and Movement Disorders, Mayo Clinic, Rochester, MN, 55905, USA, josephs.keith@mayo.edu.

    Papers in Europe PMC
  4. 04
    Miller BL4 papers · 2017

    Memory and Aging Center, Department of Neurology, University of California, San Francisco, 675 Nelson Rising Lane, Suite 190, San Francisco, California 94158, USA.

    Papers in Europe PMC
  5. 05
    Alster P3 papers · 2025

    Department of Neurology, Medical University of Warsaw, 03-242 Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Ling H3 papers · 2018

    Queen Square Brain Bank for Neurological Disorders, UCL Institute of Neurology University College London London UK.

    Papers in Europe PMC
  7. 07
    Onodera O3 papers · 2024

    Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  8. 08
    Spina S3 papers · 2021

    Department of Neurology, UCSF Memory and Aging Center, San Francisco, CA, USA.

    Papers in Europe PMC
  9. 09
    Aiba I2 papers · 2025

    Department of Neurology, National Hospital Organization Higashinagoya National Hospital, Nagoya, Japan.

    Papers in Europe PMC
  10. 10
    Ali F2 papers · 2022

    Department of Neurology, Mayo Clinic, 200 1st Street S.W., Rochester, MN, 55905, USA.

    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). 95 trials are registered for progressive supranuclear palsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

95 interventional trials matched progressive supranuclear palsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: progressive supranuclear palsy

95

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome" OR "PSP-PAGF" OR "PSP-pure akinesia with gait freezing"

Run this search on Europe PMC

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

"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome" OR "PSP-PAGF" OR "PSP-pure akinesia with gait freezing" OR "atypical progressive supranuclear palsy syndrome"

Recall-expansion terms: atypical progressive supranuclear palsy syndrome

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"progressive supranuclear palsy"

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 2026-07-27T10:27:43.804Z