Johannes Dorst, Patrick Weydt, David Brenner, Simon Witzel, Katharina Kandler, André Huss, Christine Herrmann, Maximilian Wiesenfarth, Antje Knehr, Kornelia Günther, Kathrin Müller, Jochen H Weishaupt, Johannes Prudlo, Karin Forsberg, Peter M Andersen, Angela Rosenbohm, Joachim Schuster, Francesco Roselli, Luc Dupuis, Benjamin Mayer, Hayrettin Tumani, Jan Kassubek, Albert C Ludolph
BACKGROUND: 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. METHODS: Between 02/2014 and 11/2021, we prospectively studied 60 presymptomatic ALS gene mutation carriers (40% male, age 48...
March 12, 2023: EBioMedicine