Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.

doi:10.1016/j.jns.2024.123210

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Article

Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.

Journal of the neurological sciences - 15 Nov 2024

Casiraghi Valeria, Milone Ilaria, Brusati Alberto, Peverelli Silvia, Doretti Alberto, Poletti Barbara, Maderna Luca, Morelli Claudia, Ticozzi Nicola, Silani Vincenzo, Verde Federico, Ratti Antonia

Abstract excerpt

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative condition affecting upper and/or lower motor neurons and characterized neuropathologically by TDP-43 proteinopathy. Given its role in ALS pathobiology, it is currently under debate whether TDP-43 might represent a suitable ALS biomarker to be measured in patients' biofluids. The rs12608932 A > C single nucleotide polymorphism in the UNC13A gene is a...

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PMID: 39241471
DOI: 10.1016/j.jns.2024.123210

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UNC13A

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