Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
disease diseaseOn this page
Also known as PSP-PAGFPSP-pure akinesia with gait freezing
Summary
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome (MONDO:0016562) is a disease. A subtype of atypical progressive supranuclear palsy syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 21
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002304 | Akinesia | Obligate (100%) |
| HP:0031825 | Freezing of gait | Obligate (100%) |
| HP:0002317 | Unsteady gait | Very frequent (80-99%) |
| HP:0001621 | Weak voice | Frequent (30-79%) |
| HP:0002141 | Gait imbalance | Frequent (30-79%) |
| HP:0002464 | Spastic dysarthria | Frequent (30-79%) |
| HP:0005329 | Fixed facial expression | Frequent (30-79%) |
| HP:0031434 | Abnormal speech prosody | Frequent (30-79%) |
| HP:0031814 | Palilalia | Frequent (30-79%) |
| HP:0031908 | Micrographia | Frequent (30-79%) |
| HP:0031937 | Tachylalia | Frequent (30-79%) |
| HP:0000726 | Dementia | Occasional (5-29%) |
| HP:0002505 | Loss of ambulation | Occasional (5-29%) |
| HP:0002527 | Falls | Occasional (5-29%) |
| HP:0007311 | Short stepped shuffling gait | Occasional (5-29%) |
| HP:0009053 | Distal lower limb muscle weakness | Occasional (5-29%) |
| HP:0002063 | Rigidity | Excluded (0%) |
| HP:0002067 | Bradykinesia | Excluded (0%) |
| HP:0000571 | Hypometric saccades | Very rare (<1-4%) |
| HP:0000643 | Blepharospasm | Very rare (<1-4%) |
| HP:0000657 | Oculomotor apraxia | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | progressive supranuclear palsy-pure akinesia with gait freezing syndrome |
| Mondo ID | MONDO:0016562 |
| Orphanet | 240094 |
| UMLS | C5679851 |
| MedGen | 1843032 |
| GARD | 0020647 |
| Is cancer (heuristic) | no |
Also known as: PSP-PAGF · PSP-pure akinesia with gait freezing
Disease family
Classification path: disease › human disease › disease by body system or component › syndromic disease › progressive supranuclear palsy › atypical progressive supranuclear palsy syndrome › progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Related subtypes (3): progressive supranuclear palsy-parkinsonism syndrome, progressive supranuclear palsy-corticobasal syndrome, progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.