A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy

BackgroundMAPT variants are a known cause of frontotemporal dementia and Parkinsonian syndrome, of which progressive supranuclear palsy syndrome (PSP) is a rare manifestation.ObjectiveTo report a novel MAPT variant in a PSP pedigree with autosomal dominant inheritance pattern, and to produce a liter...

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Bibliographic Details
Main Authors: Hang Li, Qijun Li, Qin Weng, Ruixue Cui, Tzu-Chen Yen, Yanfeng Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Neurology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1372507/full