Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature: Genetic pleiotropy and 4-repeat tauopathies. Issue 2 (4th March 2021)

• Record Type: Journal Article
• Authors: Rini, James; Asken, Breton; Geier, Ethan; Rankin, Katherine; Kramer, Joel; Boxer, Adam; Miller, Bruce; Yokoyama, Jennifer; Spina, Salvatore
• Is Part Of: Neurocase. Volume 27:Issue 2(2021)
• Page Start: 120
• Page End: 128
• Publication Date: 2021-03-04
• Subjects: Corticobasal degeneration -- progressive supranuclear palsy -- genetics -- pleiotropy -- neuropathology -- frontotemporal dementia -- atypical; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1879869
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: Though distinct pathological entities, corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) share multiple biochemical and genetic features suggesting overlapping pathophysiology. We report the case of a patient with an 18-year clinical course consistent with behavioral variant frontotemporal dementia. The neuropathological assessment revealed unclassifiable frontotemporal lobar degeneration with tau-immunoreactive inclusions sharing features of both CBD and PSP. Whole-genome sequencing revealed a unique combination of pleiotropic genetic risk variants associated with both PSP and CBD. These findings support the observation that CBD and PSP share genetic co-expression networks that influence neurodegenerative pathogenesis common to 4R tauopathies.