Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.

doi:10.1080/21678421.2025.2450805

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Article

Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jan 2025

McFarlane Robert, Opie-Martin Sarah, Caravaca Puchades Alejandro, Chiò Adriano, Corcia Philippe, Galvin Miriam, Heverin Mark, Hobin Frederik, Holmdahl Oskar, Ingre Caroline, Lamaire Nikita, Mac Domhnaill Éanna, Manera Umberto, Mcdermott Christopher J, McDonough Harry, Mouzouri Mohammed, Ombelet Fouke, Panadés Mónica Povedano, Sennfält Stefan, Shaw Pamela, Terrafeta Pastor Cristina, Veldink Jan H, Van Damme Philip, van den Berg Leonard, Van Eijk Ruben P A, Vasta Rosario, Weemering Daphne N, Al-Chalabi Ammar, Hardiman Orla

Abstract excerpt

OBJECTIVE: To investigate the association between C9orf72, SOD1, FUS and TARDBP variants on the clinical trajectory of ALS patients in Europe. METHODS: Nine ALS centers with population-based registries provided data on demographic and disease characteristics - at diagnosis and longitudinally - as part of PRECISION ALS. These data were harmonized and collated for analysis. RESULTS: 21,820 ALS patients were...

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PMID: 40326912
DOI: 10.1080/21678421.2025.2450805

Genes

SOD1
TARDBP
FUS

Variants

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