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

ABSTRACT:

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) carriers, 14 presymptomatic subjects, and 27 controls underwent CSF collection. We used SAA for detecting misfolded TDP-43 (TDP-43_SAA) and single molecule array (SIMOA) technology for neurofilament light chain (NfL) dosage.

Results

TDP-43 seeding activity was detected in 67% of TDP-43-linked symptomatic patients, with a specificity of 93%. Almost half of presymptom

SUBMITTER: Dellarole IL 

PROVIDER: S-EPMC12706123 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature