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| Verfasst von: | Meyer, Thomas [VerfasserIn]  |
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| | Schumann, Peggy [VerfasserIn] |
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| | Grehl, Torsten [VerfasserIn] |
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| | Weyen, Ute [VerfasserIn] |
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| | Petri, Susanne [VerfasserIn] |
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| | Rödiger, Annekathrin [VerfasserIn] |
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| | Steinbach, Robert [VerfasserIn] |
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| | Großkreutz, Julian [VerfasserIn] |
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| | Bernsen, Sarah [VerfasserIn] |
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| | Weydt, Patrick [VerfasserIn] |
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| | Wolf, Joachim [VerfasserIn] |
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| | Günther, René [VerfasserIn] |
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| | Vidovic, Maximilian [VerfasserIn] |
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| | Baum, Petra [VerfasserIn] |
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| | Metelmann, Moritz [VerfasserIn] |
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| | Weishaupt, Jochen H. [VerfasserIn] |
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| | Streubel, Berthold [VerfasserIn] |
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| | Kasper, David C. [VerfasserIn] |
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| | Koc, Yasemin [VerfasserIn] |
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| | Kettemann, Dagmar [VerfasserIn] |
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| | Norden, Jenny [VerfasserIn] |
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| | Schmitt, Philipp [VerfasserIn] |
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| | Walter, Bertram [VerfasserIn] |
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| | Münch, Christoph [VerfasserIn] |
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| | Spittel, Susanne [VerfasserIn] |
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| | Maier, André [VerfasserIn] |
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| | Körtvélyessy, Péter [VerfasserIn] |
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| Titel: | SOD1 gene screening in ALS |
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| Titelzusatz: | frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program |
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| Verf.angabe: | Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H. Weishaupt, Berthold Streubel, David C. Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier and Péter Körtvélyessy |
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| Jahr: | 2025 |
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| Umfang: | 10 S. |
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| Fussnoten: | Online veröffentlicht: 13. September 2024 ; Gesehen am 21.01.2025 |
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| Titel Quelle: | Enthalten in: Amyotrophic lateral sclerosis & frontotemporal degeneration |
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| Ort Quelle: | Abingdon : Taylor Francis Group, 2013 |
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| Jahr Quelle: | 2025 |
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| Band/Heft Quelle: | 26(2025), 1/2, Seite 162-171 |
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| ISSN Quelle: | 2167-9223 |
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| Abstract: | 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% sporadic ALS). 48.8% (n = 928) opted for notification of treatment-relevant information. Genetic variants were found as follows: SOD1 (likely) pathogenic variants (class 4/5) 1.8% (n = 34), variants of unknown significance (class 3) 0.8% (n = 16), FUS (class 4/5) 0.9% (n = 17), TARDBP (class 4/5) 1.3% (n = 25), C9orf72 hexanucleotide repeat expansion 7.0% (n = 135). In SOD1-ALS (encompassing class 3-5 variants, n = 50), 68.0% (n = 34) reported a negative family history. 74.0% (n = 37) of SOD1-ALS patients - which represent 1.9% of all participants of the screening program - were transitioned to tofersen. Median duration from start of genetic testing to treatment was 94 days (57 to 295 days). Eight patients declined treatment whereas five individuals died before initiation of therapy. The finding of SOD1 variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In SOD1-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time to tofersen calls for a SOD1-ALS management program. |
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| DOI: | doi:10.1080/21678421.2024.2401131 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1080/21678421.2024.2401131 |
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| | DOI: https://doi.org/10.1080/21678421.2024.2401131 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Amyotrophic lateral sclerosis |
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| | screening |
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| | SOD1 gene |
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| | tofersen |
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| | transition |
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| K10plus-PPN: | 191521632X |
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| Verknüpfungen: | → Zeitschrift |
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SOD1 gene screening in ALS / Meyer, Thomas [VerfasserIn]; 2025 (Online-Ressource)
