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Article

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.

Acta neuropathologica communications - 25 Jul 2025

Bernhardt Alexander M, Roeber Sigrun, Ruf Viktoria, Wlasich Elisabeth, Weidinger Endy, Longen Sebastian, Trossbach Svenja V, Gnörich Johannes, Brendel Matthias, Herms Jochen, Giese Armin, Höglinger Günter U, Levin Johannes

Abstract excerpt

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 positron emission tomography (PET) and cerebrospinal fluid (CSF) seed amplification assay (SAA) for α-synuclein (αSyn). While...

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Identifiers

PMID: 40713844
DOI: 10.1186/s40478-025-02081-1
PMCID: PMC12291237

Genes

TBK1
TANK

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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