TY  - JOUR
AU  - Dorst, Johannes
AU  - Weydt, Patrick
AU  - Brenner, David
AU  - Witzel, Simon
AU  - Kandler, Katharina
AU  - Huss-Malejko, Andre
AU  - Herrmann, Christine
AU  - Wiesenfarth, Maximilian
AU  - Knehr, Antje
AU  - Günther, Kornelia
AU  - Müller, Kathrin
AU  - Weishaupt, Jochen H
AU  - Prudlo, Johannes
AU  - Forsberg, Karin
AU  - Andersen, Peter M
AU  - Rosenbohm, Angela
AU  - Schuster, Joachim
AU  - Roselli, Francesco
AU  - Dupuis, Luc
AU  - Mayer, Benjamin
AU  - Tumani, Hayrettin
AU  - Kassubek, Jan
AU  - Ludolph, Albert C
TI  - Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers.
JO  - EBioMedicine
VL  - 90
SN  - 2352-3964
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DZNE-2023-00411
SP  - 104521
PY  - 2023
N1  - CC BY-NC-ND
AB  - 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
KW  - Humans
KW  - Male
KW  - Adult
KW  - Middle Aged
KW  - Female
KW  - Amyotrophic Lateral Sclerosis: diagnosis
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Intermediate Filaments
KW  - C9orf72 Protein: genetics
KW  - Superoxide Dismutase-1: genetics
KW  - Biomarkers
KW  - C9orf72 Protein (NLM Chemicals)
KW  - Amyotrophic lateral sclerosis (Other)
KW  - Metabolic (Other)
KW  - Metabolism (Other)
KW  - Mutations carriers (Other)
KW  - Presymptomatic (Other)
KW  - Superoxide Dismutase-1 (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:36917918
C2  - pmc:PMC10024076
DO  - DOI:10.1016/j.ebiom.2023.104521
UR  - https://pub.dzne.de/record/257342
ER  -