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ORPHA:240085

Progressive supranuclear palsy-predominant parkinsonism syndrome

low confidenceSubtype of disorder

Also known as: PSP-p · PSP-parkinsonism

Publications

1,164

Trials

5

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

MAPT

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An atypical variant of supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.

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 (1)

supranuclear palsy, progressive atypical

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

    Moderate — MAPT

  2. LiteraturePresent

    1,164 matched papers (890 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

    5 matched on ClinicalTrials.gov (2 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?

Probably — there is moderate evidence for MAPT.

GenCC classification: Moderate.

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?

1,164

1,164 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.

1,164 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).

890 in the last 10 years · low confidence

Phrase hits: 1,164 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

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
    Quattrone A29 papers · 2026

    Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.

    Papers in Europe PMC
  2. 02
    Ali F26 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  3. 03
    Josephs KA26 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  4. 04
    Whitwell JL26 papers · 2026

    Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  5. 05
    Alster P24 papers · 2026

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Madetko-Alster N21 papers · 2026

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

    Papers in Europe PMC
  7. 07
    Clark HM14 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  8. 08
    Dickson DW13 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Migda B11 papers · 2026

    Diagnostic Ultrasound Lab, Department of Pediatric Radiology, Medical Faculty, Medical University of Warsaw, 03-242 Warsaw, Poland.

    Papers in Europe PMC
  10. 10
    Satoh R11 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

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

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

Observational and natural-history studies

3 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

Open the complete matched search on ClinicalTrials.gov

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-predominant parkinsonism syndrome" OR "PSP-p" OR "PSP-parkinsonism" OR "supranuclear palsy, progressive atypical"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Progressive supranuclear palsy atypical

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

"Progressive supranuclear palsy-predominant parkinsonism syndrome" OR "PSP-p" OR "PSP-parkinsonism" OR "supranuclear palsy, progressive atypical" OR "Progressive supranuclear palsy atypical" OR "MAPT"

Recall-expansion terms: MAPT

Interventional trials matched via: recall-expansion (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 · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"progressive supranuclear palsy"

Query health: ok — strategies attempted: phrase, mesh, 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
  • Publication count (1164) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T10:27:35.763Z