SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.

doi:10.1080/21678421.2024.2401131

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SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2025

Meyer Thomas, Schumann Peggy, Grehl Torsten, Weyen Ute, Petri Susanne, Rödiger Annekathrin, Steinbach Robert, Grosskreutz Julian, Bernsen Sarah, Weydt Patrick, Wolf Joachim, Günther René, Vidovic Maximilian, Baum Petra, Metelmann Moritz, Weishaupt Jochen H, Streubel Berthold, Kasper David C, Koc Yasemin, Kettemann Dagmar, Norden Jenny, Schmitt Philipp, Walter Bertram, Münch Christoph, Spittel Susanne, Maier André, Körtvélyessy Péter

Abstract excerpt

OBJECTIVE: 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. METHODS: 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...

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PMID: 39268612
DOI: 10.1080/21678421.2024.2401131

Genes

SOD1
FUS
TARDBP

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