%0 Journal Article
%A Dorst, Johannes
%A Weydt, Patrick
%A Brenner, David
%A Witzel, Simon
%A Kandler, Katharina
%A Huss-Malejko, Andre
%A Herrmann, Christine
%A Wiesenfarth, Maximilian
%A Knehr, Antje
%A Günther, Kornelia
%A Müller, Kathrin
%A Weishaupt, Jochen H
%A Prudlo, Johannes
%A Forsberg, Karin
%A Andersen, Peter M
%A Rosenbohm, Angela
%A Schuster, Joachim
%A Roselli, Francesco
%A Dupuis, Luc
%A Mayer, Benjamin
%A Tumani, Hayrettin
%A Kassubek, Jan
%A Ludolph, Albert C
%T Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers.
%J EBioMedicine
%V 90
%@ 2352-3964
%C Amsterdam [u.a.]
%I Elsevier
%M DZNE-2023-00411
%P 104521
%D 2023
%Z CC BY-NC-ND
%X The emergence of potentially effective new therapies for genetic forms of amyotrophic lateral sclerosis (ALS) necessitates the identification of biomarkers to facilitate early treatment, prior to the onset of motor symptoms. Here, we sought to investigate whether metabolic alterations are detectable in presymptomatic ALS gene mutation carriers, and whether such alterations precede neurofilament light chain (NfL) changes in serum.Between 02/2014 and 11/2021, we prospectively studied 60 presymptomatic ALS gene mutation carriers (40
%K Humans
%K Male
%K Adult
%K Middle Aged
%K Female
%K Amyotrophic Lateral Sclerosis: diagnosis
%K Amyotrophic Lateral Sclerosis: genetics
%K Intermediate Filaments
%K C9orf72 Protein: genetics
%K Superoxide Dismutase-1: genetics
%K Biomarkers
%K C9orf72 Protein (NLM Chemicals)
%K Amyotrophic lateral sclerosis (Other)
%K Metabolic (Other)
%K Metabolism (Other)
%K Mutations carriers (Other)
%K Presymptomatic (Other)
%K Superoxide Dismutase-1 (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:36917918
%2 pmc:PMC10024076
%R 10.1016/j.ebiom.2023.104521
%U https://pub.dzne.de/record/257342