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@ARTICLE{Kessler:157807,
      author       = {Kessler, Christoph and Serna-Higuita, Lina M and Rattay,
                      Tim W and Maetzler, Walter and Wurster, Isabel and Hayer,
                      Stefanie and Wilke, Carlo and Hengel, Holger and Reichbauer,
                      Jennifer and Armbruster, Marcel and Schöls, Ludger and
                      Martus, Peter and Schüle-Freyer, Rebecca},
      title        = {{N}eurofilament light chain is a cerebrospinal fluid
                      biomarker in hereditary spastic paraplegia.},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {8},
      number       = {5},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2021-01264},
      pages        = {1122 - 1131},
      year         = {2021},
      note         = {CC BY-NC-ND},
      abstract     = {Despite the need for diagnostics and research, data on
                      fluid biomarkers in hereditary spastic paraplegia (HSP) are
                      scarce. We, therefore, explore Neurofilament light chain
                      (NfL) levels in cerebrospinal fluid (CSF) of patients with
                      hereditary spastic paraplegia and provide information on the
                      influence of demographic factors.The study recruited 59 HSP
                      cases (33 genetically confirmed) and 59 controls matched in
                      age and sex. Neurofilament light chain levels were assessed
                      by enzyme-linked immunosorbent assay. The statistical
                      analysis included the effects of age, sex, and genetic
                      status (confirmed vs. not confirmed).Levels of CSF NfL were
                      significantly increased in patients with hereditary spastic
                      paraplegia compared to controls (median 741 pg/mL vs.
                      387 pg/mL, p < 0.001). Age $(1.4\%$ annual increase) and
                      male sex $(81\%$ increase) impacted CSF NfL levels in
                      patients. The age-dependent increase of CSF NfL levels was
                      steeper in controls $(2.6\%$ annual increase). Thus, the CSF
                      NfL ratio of patients and matched controls-expressing
                      patients' fold increases in CSF NfL-declined considerably
                      with age.CSF NfL is a reliable cross-sectional biomarker in
                      hereditary spastic paraplegia. Sex is a relevant factor to
                      consider, as male patients have remarkably higher CSF NfL
                      levels. While levels also increase with age, the gap between
                      patients and controls is narrowing in older subjects. This
                      indicates distinct temporal dynamics of CSF NfL in patients
                      with hereditary spastic paraplegia, with a rise around
                      phenotypic conversion and comparatively static levels
                      afterward.},
      keywords     = {Adolescent / Adult / Age Factors / Aged / Biomarkers:
                      cerebrospinal fluid / Cross-Sectional Studies / Female /
                      Humans / Male / Middle Aged / Neurofilament Proteins:
                      cerebrospinal fluid / Sex Factors / Spastic Paraplegia,
                      Hereditary: cerebrospinal fluid / Spastic Paraplegia,
                      Hereditary: diagnosis / Young Adult},
      cin          = {AG Gasser 1 / AG Maetzler / Core ICRU / AG Jucker},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000024 /
                      I:(DE-2719)1240005 / I:(DE-2719)1210001},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
                      Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33819388},
      pmc          = {pmc:PMC8108414},
      doi          = {10.1002/acn3.51358},
      url          = {https://pub.dzne.de/record/157807},
}