Protracted course progressive supranuclear palsy.

ABSTRACT:

Background and purpose

Progressive supranuclear palsy (PSP) encompasses a broader range of disease courses than previously appreciated. The most frequent clinical presentations of PSP are Richardson syndrome (RS) and PSP with a predominant Parkinsonism phenotype (PSP-P). Time to reach gait dependence and cognitive impairment have been proposed as prognostic disease milestones. Genetic polymorphisms in TRIM11 and SLC2A13 genes have been associated with longer disease duration (DD).

Methods

Methods used include retrospective chart review, genetic single nucleotide polymorphism analyses (in three cases), and neuropathology.

Results

We identified four cases with long (>10-15 years) or very long (>15 years) DD. Stage 1 PSP tau pathology was present in two cases (one

SUBMITTER: Couto B 

PROVIDER: S-EPMC10276574 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature