TY  - JOUR
AU  - Schmitt, Philipp
AU  - Schumann, Peggy
AU  - Koerbs, Alexander
AU  - Lin, Hsuen-Ju
AU  - Grehl, Torsten
AU  - Weyen, Ute
AU  - Petri, Susanne
AU  - Rödiger, Annekathrin
AU  - Steinbach, Robert
AU  - Großkreutz, Julian
AU  - Bernsen, Sarah
AU  - Weydt, Patrick
AU  - Wolf, Joachim
AU  - Günther, René
AU  - Baum, Petra
AU  - Metelmann, Moritz
AU  - Weishaupt, Jochen H
AU  - Streubel, Berthold
AU  - Kasper, David C
AU  - Koc, Yasemin
AU  - Kettemann, Dagmar
AU  - Norden, Jenny
AU  - Walter, Bertram
AU  - Münch, Christoph
AU  - Spittel, Susanne
AU  - Maier, André
AU  - Körtvelyessy, Peter
AU  - Meyer, Thomas
TI  - Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.
JO  - Journal of neurology
VL  - 273
IS  - 1
SN  - 0367-004X
CY  - [Darmstadt]
PB  - Steinkopff
M1  - DZNE-2025-01367
SP  - 22
PY  - 2025
AB  - 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
KW  - Humans
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Amyotrophic Lateral Sclerosis: blood
KW  - Amyotrophic Lateral Sclerosis: physiopathology
KW  - Amyotrophic Lateral Sclerosis: diagnosis
KW  - Neurofilament Proteins: blood
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - C9orf72 Protein: genetics
KW  - Phenotype
KW  - Aged
KW  - RNA-Binding Protein FUS: genetics
KW  - Superoxide Dismutase-1: genetics
KW  - Adult
KW  - Disease Progression
KW  - Cohort Studies
KW  - DNA-Binding Proteins: genetics
KW  - ALS progression (Other)
KW  - Genetic ALS (Other)
KW  - Neurofilament (Other)
KW  - Phenotype (Other)
KW  - Neurofilament Proteins (NLM Chemicals)
KW  - neurofilament protein L (NLM Chemicals)
KW  - C9orf72 Protein (NLM Chemicals)
KW  - C9orf72 protein, human (NLM Chemicals)
KW  - RNA-Binding Protein FUS (NLM Chemicals)
KW  - Superoxide Dismutase-1 (NLM Chemicals)
KW  - TARDBP protein, human (NLM Chemicals)
KW  - FUS protein, human (NLM Chemicals)
KW  - SOD1 protein, human (NLM Chemicals)
KW  - DNA-Binding Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:41388206
C2  - pmc:PMC12700978
DO  - DOI:10.1007/s00415-025-13555-6
UR  - https://pub.dzne.de/record/282906
ER  -