Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.

doi:10.1007/s00415-025-13555-6

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Article

Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.

Journal of neurology - 12 Dec 2025

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

Abstract excerpt

OBJECTIVE: In genetic amyotrophic lateral sclerosis (ALS), the clinical phenotypes, disease progression and neurofilament light chain (NfL) levels are incompletely characterized. METHODS: In a total cohort of 1988 ALS patients, a subcohort of genetic ALS linked to C9orf72 (n = 137), SOD1 (n = 54), TARDBP (n = 27), and FUS (n = 19) was investigated. The phenotypes of onset region, propagation and motor neuron...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41388206
DOI: 10.1007/s00415-025-13555-6
PMCID: PMC12700978

Genes

FUS
SOD1
TARDBP

Provenance

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