progressive supranuclear palsy-parkinsonism syndrome
Findings
No curated finding names progressive supranuclear palsy-parkinsonism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.
Definition from the Mondo Disease Ontology (MONDO:0009839), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal saccadic eye movementsHPOHP:0000570
- Very frequent (80% to 99% of cases)
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- Very frequent (80% to 99% of cases)
- Postural instabilityHPOHP:0002172
- Very frequent (80% to 99% of cases)
- Vertical supranuclear gaze palsyHPOHP:0000511
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
- Axial muscle stiffnessHPOHP:0006921
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- FallsHPOHP:0002527
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
Reported absent (1)
- AnxietyHPOHP:0000739
Show the remaining 7
- RigidityHPOHP:0002063
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Occasional (5% to 29% of cases)
- Impaired visuospatial constructive cognitionHPOHP:0010794
- Occasional (5% to 29% of cases)
- Memory impairmentHPOHP:0002354
- Occasional (5% to 29% of cases)
- Neuromuscular dysphagiaHPOHP:0002068
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MAPTHGNC:6893
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: progressive supranuclear palsy-parkinsonism syndrome
- Also called
- PSP-pPSP-parkinsonismsupranuclear palsy, progressive atypical