Co-occurrence of multiple pathologies in a case of frontotemporal dementia with TBK1 mutation: first in vivo detection of alpha-synuclein and tau co-pathology

Abstract We present the case of a 74-year-old woman with behavioral variant frontotemporal dementia (bvFTD) linked to a pathogenic TANK-binding kinase 1 (TBK1) mutation (c.1349_1352del; p.Ile450Lysfs*15). During clinical workup, the patient underwent comprehensive biomarker analysis, including tau p...

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Main Authors: Alexander M. Bernhardt, Sigrun Roeber, Viktoria Ruf, Elisabeth Wlasich, Endy Weidinger, Sebastian Longen, Svenja V. Trossbach, Johannes Gnörich, Matthias Brendel, Jochen Herms, Armin Giese, Günter U. Höglinger, Johannes Levin
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Acta Neuropathologica Communications
Online Access:https://doi.org/10.1186/s40478-025-02081-1
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