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ORPHA:240112

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

high confidenceSubtype of disorder

Also known as: PSP-AOS · PSP-PNFA · Progressive supranuclear palsy-apraxia of speech syndrome

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

Publications

41

39.4th percentile

Trials

0

Interventional, condition-specific

Researchers

180

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 an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

progressive supranuclear palsy-apraxia of speech syndrome

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

    41 matched papers (23 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?

41

41 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.

41 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).

23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)

Phrase hits: 41 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

180

Distinct author names in 41 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
    Josephs KA6 papers · 2021

    Department of Neurology, Division of Movement Disorders and Behavioral Neurology, Mayo Clinic, Rochester, MN 55905, USA.josephs.keith@mayo.edu

    Papers in Europe PMC
  2. 02
    Duffy JR4 papers · 2021

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

    Papers in Europe PMC
  3. 03
    Dickson DW3 papers · 2018

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

    Papers in Europe PMC
  4. 04
    Ling H3 papers · 2018

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

    Papers in Europe PMC
  5. 05
    Litvan I3 papers · 2021

    Parkinson and Other Movement Disorders Center, Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.

    Papers in Europe PMC
  6. 06
    Strand EA3 papers · 2015

    3 Department of Neurology (Speech Pathology), Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  7. 07
    Whitwell JL3 papers · 2015

    6 Department of Radiology (Neuroradiology), Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  8. 08
    Alster P2 papers · 2025

    Department of Neurology, Medical University of Warsaw, Kondratowicza 8, 03-242 Warsaw, Poland.

    Papers in Europe PMC
  9. 09
    Espay AJ2 papers · 2011

    Department of Neurology, Movement Disorders Center, The Neuroscience Institute, University of Cincinnati, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  10. 10
    Jack CR Jr2 papers · 2014

    6 Department of Radiology (Neuroradiology), Mayo Clinic, 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-progressive non-fluent aphasia syndrome" OR "PSP-AOS" OR "PSP-PNFA" OR "Progressive supranuclear palsy-apraxia of speech syndrome" OR "Progressive supranuclear palsy-apraxia of the speech syndrome"

Run this search on Europe PMC

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

"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome" OR "PSP-AOS" OR "PSP-PNFA" OR "Progressive supranuclear palsy-apraxia of speech syndrome" OR "Progressive supranuclear palsy-apraxia of the speech syndrome" 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 2026-07-27T10:28:01.209Z