Article
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Journal of neurology - 1 Oct 2024
Wiesenfarth Maximilian, Forouhideh-Wiesenfarth Yalda, Elmas Zeynep, Parlak Özlem, Weiland Ulrike, Herrmann Christine, Schuster Joachim, Freischmidt Axel, Müller Kathrin, Siebert Reiner, Günther Kornelia, Fröhlich Elke, Knehr Antje, Simak Tatiana, Bachhuber Franziska, Regensburger Martin, Petri Susanne, Klopstock Thomas, Reilich Peter, Schöberl Florian, Schumann Peggy, Körtvélyessy Peter, Meyer Thomas, Ruf Wolfgang P, Witzel Simon, Tumani Hayrettin, Brenner David, Dorst Johannes, Ludolph Albert C
Abstract excerpt
Pathogenic variants in the Cu/Zn superoxide dismutase (SOD1) gene can be detected in approximately 2% of sporadic and 11% of familial amyotrophic lateral sclerosis (ALS) patients in Europe. We analyzed the clinical phenotypes of 83 SOD1-ALS patients focusing on patients carrying the most frequent (likely) pathogenic variants (R116G, D91A, L145F) in Germany. Moreover, we describe the effect of tofersen treatment...
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