%0 Journal Article
%A Meyer, Thomas
%A Schumann, Peggy
%A Grehl, Torsten
%A Weyen, Ute
%A Petri, Susanne
%A Rödiger, Annekathrin
%A Steinbach, Robert
%A Grosskreutz, Julian
%A Bernsen, Sarah
%A Weydt, Patrick
%A Wolf, Joachim
%A Günther, René
%A Vidovic, Maximilian
%A Baum, Petra
%A Metelmann, Moritz
%A Weishaupt, Jochen H
%A Streubel, Berthold
%A Kasper, David C
%A Koc, Yasemin
%A Kettemann, Dagmar
%A Norden, Jenny
%A Schmitt, Philipp
%A Walter, Bertram
%A Münch, Christoph
%A Spittel, Susanne
%A Maier, André
%A Körtvelyessy, Peter
%T SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
%J Amyotrophic lateral sclerosis & frontotemporal degeneration
%V 26
%N 1-2
%@ 2167-8421
%C Abingdon
%I Taylor Francis Group
%M DZNE-2025-00166
%P 162 - 171
%D 2025
%X To report the frequency of pathogenic SOD1 gene variants in a screening program in amyotrophic lateral sclerosis (ALS), and the clinical practice of transition to an expanded access program (EAP) of tofersen treatment.From October 2021 to February 2024, at 11 ALS centers in Germany genetic testing for SOD1, FUS, TARDBP, and C9orf72 was performed. Patients were offered to opt for notification either about all genetic variants or SOD1 variants relevant for tofersen therapy. The transition to the EAP with tofersen was assessed.1935 patients were screened (94.7
%K Humans
%K Amyotrophic Lateral Sclerosis: genetics
%K Amyotrophic Lateral Sclerosis: drug therapy
%K Amyotrophic Lateral Sclerosis: diagnosis
%K Superoxide Dismutase-1: genetics
%K Male
%K Female
%K Genetic Testing: methods
%K Middle Aged
%K Mutation: genetics
%K Aged
%K Adult
%K C9orf72 Protein: genetics
%K Germany
%K RNA-Binding Protein FUS: genetics
%K DNA-Binding Proteins
%K Amyotrophic lateral sclerosis (Other)
%K SOD1 gene (Other)
%K screening (Other)
%K tofersen (Other)
%K transition (Other)
%K Superoxide Dismutase-1 (NLM Chemicals)
%K SOD1 protein, human (NLM Chemicals)
%K C9orf72 Protein (NLM Chemicals)
%K TARDBP protein, human (NLM Chemicals)
%K C9orf72 protein, human (NLM Chemicals)
%K RNA-Binding Protein FUS (NLM Chemicals)
%K FUS protein, human (NLM Chemicals)
%K DNA-Binding Proteins (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39268612
%R 10.1080/21678421.2024.2401131
%U https://pub.dzne.de/record/276085