%0 Journal Article
%A Schmitt, Philipp
%A Schumann, Peggy
%A Koerbs, Alexander
%A Lin, Hsuen-Ju
%A Grehl, Torsten
%A Weyen, Ute
%A Petri, Susanne
%A Rödiger, Annekathrin
%A Steinbach, Robert
%A Großkreutz, Julian
%A Bernsen, Sarah
%A Weydt, Patrick
%A Wolf, Joachim
%A Günther, René
%A Baum, Petra
%A Metelmann, Moritz
%A Weishaupt, Jochen H
%A Streubel, Berthold
%A Kasper, David C
%A Koc, Yasemin
%A Kettemann, Dagmar
%A Norden, Jenny
%A Walter, Bertram
%A Münch, Christoph
%A Spittel, Susanne
%A Maier, André
%A Körtvelyessy, Peter
%A Meyer, Thomas
%T Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.
%J Journal of neurology
%V 273
%N 1
%@ 0367-004X
%C [Darmstadt]
%I Steinkopff
%M DZNE-2025-01367
%P 22
%D 2025
%X In genetic amyotrophic lateral sclerosis (ALS), the clinical phenotypes, disease progression and neurofilament light chain (NfL) levels are incompletely characterized.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 involvement were analyzed according to the OPM classification. Serum NfL (sNfL) was measured and related to ALS progression (ALSPR, monthly change of ALS Functional Rating Scale-Revised). To quantify NfL elevation relative to ALSPR, the logNfL(index), the log-transformed ratio of sNfL to ALSPR was calculated.C9orf72-associated ALS showed frequent bulbar onset (n = 42.6
%K Humans
%K Amyotrophic Lateral Sclerosis: genetics
%K Amyotrophic Lateral Sclerosis: blood
%K Amyotrophic Lateral Sclerosis: physiopathology
%K Amyotrophic Lateral Sclerosis: diagnosis
%K Neurofilament Proteins: blood
%K Male
%K Female
%K Middle Aged
%K C9orf72 Protein: genetics
%K Phenotype
%K Aged
%K RNA-Binding Protein FUS: genetics
%K Superoxide Dismutase-1: genetics
%K Adult
%K Disease Progression
%K Cohort Studies
%K DNA-Binding Proteins: genetics
%K ALS progression (Other)
%K Genetic ALS (Other)
%K Neurofilament (Other)
%K Phenotype (Other)
%K Neurofilament Proteins (NLM Chemicals)
%K neurofilament protein L (NLM Chemicals)
%K C9orf72 Protein (NLM Chemicals)
%K C9orf72 protein, human (NLM Chemicals)
%K RNA-Binding Protein FUS (NLM Chemicals)
%K Superoxide Dismutase-1 (NLM Chemicals)
%K TARDBP protein, human (NLM Chemicals)
%K FUS protein, human (NLM Chemicals)
%K SOD1 protein, human (NLM Chemicals)
%K DNA-Binding Proteins (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:41388206
%2 pmc:PMC12700978
%R 10.1007/s00415-025-13555-6
%U https://pub.dzne.de/record/282906