Article
The MAPT p.E342K and p.R406W mutations are associated with progressive supranuclear palsy with atypical features.
Parkinsonism & related disorders - 1 Feb 2024
Badihian Negin, Ali Farwa, Botha Hugo, Savica Rodolfo, Machulda Mary M, Clark Heather M, Stierwalt Julie A G, Pham Nha Trang Thu, Baker Matthew C, Rademakers Rosa, Lowe Val, Whitwell Jennifer L, Josephs Keith A
Abstract excerpt
INTRODUCTION: Progressive supranuclear palsy (PSP) is an atypical parkinsonism caused by the intracerebral aggregation of the microtubule-associated protein tau (MAPT) which is encoded by MAPT gene. Although PSP is a sporadic disease, MAPT mutations have been reported in rare cases. METHODS: Among 190 patients with PSP who were recruited by the Neurodegenerative Research Group at Mayo Clinic during 2009-2023, we...
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