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GTR Home > Conditions/Phenotypes > Progressive supranuclear palsy-parkinsonism syndrome

Progressive supranuclear palsy-parkinsonism syndrome

Synonyms
Atypical PSP; Parkinson-dementia syndrome; Progressive supranuclear palsy atypical; Supranuclear palsy, progressive, 1, atypical
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP. [from ORDO]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DDPAC, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40, MAPT
    Summary: microtubule associated protein tau

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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