Detection of TDP-43 seeds in CSF of presymptomatic and symptomatic genetic FTD/ALS.

doi:10.1002/alz.70989

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Article

Detection of TDP-43 seeds in CSF of presymptomatic and symptomatic genetic FTD/ALS.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Dec 2025

Dellarole Ilaria Linda, Aprea Vittoria, Catania Marcella, Battipaglia Claudia, Romeo Aurora, Villa Cristina, Burato Anna, Celauro Luigi, Bella Eleonora Dalla, Riva Nilo, Salvi Erika, Rossi Giacomina, Fede Giuseppe Di, Legname Giuseppe, De Houwer Julie F H, Alberici Antonella, Borroni Barbara, Seelaar Harro, van Swieten John C, Moda Fabio, Caroppo Paola

Abstract excerpt

INTRODUCTION: Seed amplification assays (SAAs) have shown promising results in detecting misfolded transactive response (TAR) DNA-binding protein 43 (TDP-43) in cerebrospinal fluid (CSF) of genetic frontotemporal dementia (FTD). To date, the use of SAA has yet to be evaluated in presymptomatic individuals. METHODS: Thirty patients carrying GRN or C9orf72 mutations, 2 microtubule-associated protein tau (MAPT)...

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PMID: 41399249
DOI: 10.1002/alz.70989
PMCID: PMC12706123

Genes

GRN
MAPT

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