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@ARTICLE{Schmitt:282906,
      author       = {Schmitt, Philipp and Schumann, Peggy and Koerbs, Alexander
                      and Lin, Hsuen-Ju and Grehl, Torsten and Weyen, Ute and
                      Petri, Susanne and Rödiger, Annekathrin and Steinbach,
                      Robert and Großkreutz, Julian and Bernsen, Sarah and Weydt,
                      Patrick and Wolf, Joachim and Günther, René and Baum,
                      Petra and Metelmann, Moritz and Weishaupt, Jochen H and
                      Streubel, Berthold and Kasper, David C and Koc, Yasemin and
                      Kettemann, Dagmar and Norden, Jenny and Walter, Bertram and
                      Münch, Christoph and Spittel, Susanne and Maier, André and
                      Körtvelyessy, Peter and Meyer, Thomas},
      title        = {{M}otor phenotypes and neurofilament light chain in genetic
                      amyotrophic lateral sclerosis-results from a multicenter
                      screening program.},
      journal      = {Journal of neurology},
      volume       = {273},
      number       = {1},
      issn         = {0367-004X},
      address      = {[Darmstadt]},
      publisher    = {Steinkopff},
      reportid     = {DZNE-2025-01367},
      pages        = {22},
      year         = {2025},
      abstract     = {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 = $42.6\%),$ higher ALSPR (0.95, SD 0.84), highest
                      NfL (116.3, SD 72.7 pg/mL) and logNfL(index) (5.02, SD
                      0.88). SOD1-ALS had mostly limb onset (n = $96.1\%),$ slower
                      ALSPR (0.57, SD 0.60), high NfL (76.1, SD 61.4 pg/mL) and a
                      comparably high logNfL(index) (4.94, SD 1.03). FUS-ALS
                      exhibited mostly limb onset $(82.4\%),$ lower motor neuron
                      dysfunction $(70.6\%),$ a wide range of faster $(22.2\%)$ to
                      slower ALSPR $(55.6\%),$ lower NfL (66.2, SD 32.9) and
                      logNfL(4.65, SD 0.9). TARDBP-ALS displayed the lowest ALSPR
                      (0.53, SD 0.52), the lowest NfL (43.3, SD 31.8 pg/mL) and
                      the lowest logNfL(index) (4.40, SD 0.7).In C9orf72-ALS, the
                      phenotype and NfL profile are close to typical ALS. The
                      finding of distinct phenotypes and NfL patterns in SOD1-,
                      FUS- and TARDBP-associated ALS underscores the relevance of
                      genetic ALS for prognostic counseling, clinical trial
                      design, treatment expectations and unraveling of pathogenic
                      mechanisms in ALS.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: blood / Amyotrophic Lateral
                      Sclerosis: physiopathology / Amyotrophic Lateral Sclerosis:
                      diagnosis / Neurofilament Proteins: blood / Male / Female /
                      Middle Aged / C9orf72 Protein: genetics / Phenotype / Aged /
                      RNA-Binding Protein FUS: genetics / Superoxide Dismutase-1:
                      genetics / Adult / Disease Progression / Cohort Studies /
                      DNA-Binding Proteins: genetics / ALS progression (Other) /
                      Genetic ALS (Other) / Neurofilament (Other) / Phenotype
                      (Other) / Neurofilament Proteins (NLM Chemicals) /
                      neurofilament protein L (NLM Chemicals) / C9orf72 Protein
                      (NLM Chemicals) / C9orf72 protein, human (NLM Chemicals) /
                      RNA-Binding Protein FUS (NLM Chemicals) / Superoxide
                      Dismutase-1 (NLM Chemicals) / TARDBP protein, human (NLM
                      Chemicals) / FUS protein, human (NLM Chemicals) / SOD1
                      protein, human (NLM Chemicals) / DNA-Binding Proteins (NLM
                      Chemicals)},
      cin          = {AG Radbruch / Clinical Research (Bonn) / AG Falkenburger},
      ddc          = {610},
      cid          = {I:(DE-2719)5000075 / I:(DE-2719)1011001 /
                      I:(DE-2719)1710012},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41388206},
      pmc          = {pmc:PMC12700978},
      doi          = {10.1007/s00415-025-13555-6},
      url          = {https://pub.dzne.de/record/282906},
}