supranuclear palsy, progressive, 1
Findings
No curated finding names supranuclear palsy, progressive, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.
Definition from the Mondo Disease Ontology (MONDO:0010997), read 2026-09-29. CC BY 4.0.
- Onset and course
- Late onset
HPO, annotations 2026-09-02
Features
35 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.
- AstrocytosisHPOHP:0002446
- 1 of 1 reported patient
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 23
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Abnormal saccadic eye movementsHPOHP:0000570
- Frequent (30% to 79% of cases)
- Axial dystoniaHPOHP:0002530
- Frequent (30% to 79% of cases)
- BlepharospasmHPOHP:0000643
- Frequent (30% to 79% of cases)
- Blurred visionHPOHP:0000622
- Frequent (30% to 79% of cases)
- Conjunctival hyperemiaHPOHP:0030953
- Frequent (30% to 79% 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
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: supranuclear palsy, progressive, 1
- Also called
- classic progressive supranuclear palsy syndromeclassic PSP syndromePSPRichardson syndromesupranuclear palsy, progressivesupranuclear palsy, progressive, type 1