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@ARTICLE{Hermann:163435,
      author       = {Hermann, Peter and Canaslan, Sezgi and Villar-Piqué, Anna
                      and Bunck, Timothy and Goebel, Stefan and Llorens Torres,
                      Francesc Josep and Schmitz, Matthias and Zerr, Inga},
      title        = {{P}lasma neurofilament light chain as a biomarker for fatal
                      familial insomnia.},
      journal      = {European journal of neurology},
      volume       = {29},
      number       = {6},
      issn         = {1351-5101},
      address      = {Oxford},
      publisher    = {Blackwell Science},
      reportid     = {DZNE-2022-00195},
      pages        = {1841-1846},
      year         = {2022},
      note         = {ISSN 1468-1331 not unique: **2 hits**. (CC BY-NC)},
      abstract     = {Fatal familial insomnia is a rare hereditary prion disease
                      associated with the D178N-129M PRNP mutation. Early
                      diagnosis is difficult, because the clinical syndrome may
                      overlap with affective disorders. In addition, most known
                      cerebrospinal fluid biomarkers for prion diseases and
                      magnetic resonance imaging do not show a good diagnostic
                      accuracy for fatal familial insomnia. In this context, data
                      on plasma biomarkers are scarce.We analyzed levels of
                      neurofilament light chain, glial fibrillary acidic protein,
                      chitinase-3-like protein 1, calcium-binding protein B, and
                      total tau protein in six serial plasma samples from a
                      patient with fatal familial insomnia. Subsequently, plasma
                      neurofilament light chain was analyzed in n = 25 patients
                      and n = 19 controls. The diagnostic accuracy and
                      associations with disease stage and duration were
                      explored.Among all biomarker candidates in the case study,
                      only neurofilament light chain levels showed a constant
                      evolution and increased over time. They discriminated fatal
                      familial insomnia from controls with an area under the curve
                      of 0.992 $(95\%$ confidence interval [CI] = 0.974-1) in the
                      case-control study. Higher concentrations were associated
                      with methionine homozygosity at codon 129 PRNP (p = 0.006),
                      shorter total disease duration (rho = -0.467, p = 0.019,
                      $95\%$ CI = -0.790 to -0.015), and shorter time from
                      sampling to death (rho = -0.467, p = 0.019, $95\%$ CI =
                      -0.773 to -0.019).Plasma neurofilament light chain may be a
                      valuable minimally invasive diagnostic biomarker for fatal
                      familial insomnia after clinical onset. Most important,
                      stage-related increase and association with disease duration
                      indicate potential as a prognostic marker and as a surrogate
                      marker in clinical trials.},
      keywords     = {Biomarkers / Case-Control Studies / Humans / Insomnia,
                      Fatal Familial: diagnosis / Insomnia, Fatal Familial:
                      genetics / Intermediate Filaments / Prion Diseases: genetics
                      / biomarker (Other) / fatal familial insomnia (Other) /
                      neurofilament light chain (Other) / plasma (Other) / prion
                      disease (Other)},
      cin          = {AG Zerr},
      ddc          = {610},
      cid          = {I:(DE-2719)1440011-1},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35212083},
      doi          = {10.1111/ene.15302},
      url          = {https://pub.dzne.de/record/163435},
}