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progressive supranuclear palsy-pure akinesia with gait freezing syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive supranuclear palsy-pure akinesia with gait freezing syndrome

MONDO:0016562

Also known as:PSP-PAGFPSP-pure akinesia with gait freezing

Overview

PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.

Patient Orgs1 organizations · Progressive Supranuclear Palsy Association UK

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Akinesia and Freezing of gait; and very common findings: Unsteady gait. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Freezing of gait, Unsteady gait, Gait imbalance

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 8 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for progressive supranuclear palsy-pure akinesia with gait freezing syndrome.

2 publications have been identified in PubMed for progressive supranuclear palsy-pure akinesia with gait freezing syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Shiga T (2025). [PMID: 39135248](https://pubmed.ncbi.nlm.nih.gov/39135248/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Yamahara N (2024). [PMID: 39452025](https://pubmed.ncbi.nlm.nih.gov/39452025/). *Brain sciences*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 12:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Progressive Supranuclear Palsy Association UK

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:240094

GARD

Genetic and Rare Diseases Info Center

GARD:20647

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Progressive Supranuclear Palsy Association UK and other patient organizations for support?

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progressive supranuclear palsy-pure akinesia with gait freezing syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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