TY  - JOUR
AU  - Meyer, Thomas
AU  - Schumann, Peggy
AU  - Grehl, Torsten
AU  - Weyen, Ute
AU  - Petri, Susanne
AU  - Rödiger, Annekathrin
AU  - Steinbach, Robert
AU  - Grosskreutz, Julian
AU  - Bernsen, Sarah
AU  - Weydt, Patrick
AU  - Wolf, Joachim
AU  - Günther, René
AU  - Vidovic, Maximilian
AU  - Baum, Petra
AU  - Metelmann, Moritz
AU  - Weishaupt, Jochen H
AU  - Streubel, Berthold
AU  - Kasper, David C
AU  - Koc, Yasemin
AU  - Kettemann, Dagmar
AU  - Norden, Jenny
AU  - Schmitt, Philipp
AU  - Walter, Bertram
AU  - Münch, Christoph
AU  - Spittel, Susanne
AU  - Maier, André
AU  - Körtvelyessy, Peter
TI  - SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
JO  - Amyotrophic lateral sclerosis & frontotemporal degeneration
VL  - 26
IS  - 1-2
SN  - 2167-8421
CY  - Abingdon
PB  - Taylor Francis Group
M1  - DZNE-2025-00166
SP  - 162 - 171
PY  - 2025
AB  - 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
KW  - Humans
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Amyotrophic Lateral Sclerosis: drug therapy
KW  - Amyotrophic Lateral Sclerosis: diagnosis
KW  - Superoxide Dismutase-1: genetics
KW  - Male
KW  - Female
KW  - Genetic Testing: methods
KW  - Middle Aged
KW  - Mutation: genetics
KW  - Aged
KW  - Adult
KW  - C9orf72 Protein: genetics
KW  - Germany
KW  - RNA-Binding Protein FUS: genetics
KW  - DNA-Binding Proteins
KW  - Amyotrophic lateral sclerosis (Other)
KW  - SOD1 gene (Other)
KW  - screening (Other)
KW  - tofersen (Other)
KW  - transition (Other)
KW  - Superoxide Dismutase-1 (NLM Chemicals)
KW  - SOD1 protein, human (NLM Chemicals)
KW  - C9orf72 Protein (NLM Chemicals)
KW  - TARDBP protein, human (NLM Chemicals)
KW  - C9orf72 protein, human (NLM Chemicals)
KW  - RNA-Binding Protein FUS (NLM Chemicals)
KW  - FUS protein, human (NLM Chemicals)
KW  - DNA-Binding Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39268612
DO  - DOI:10.1080/21678421.2024.2401131
UR  - https://pub.dzne.de/record/276085
ER  -