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@ARTICLE{Kessler:285033,
      author       = {Kessler, Christoph and Wilke, Carlo and Hengel, Holger and
                      Rattay, Tim W and Maleska Maceski, Aleksandra and Kuhle,
                      Jens and Schöls, Ludger and Schüle, Rebecca},
      title        = {{S}erum {N}f{L}, but not {GFAP}, differentiates primary
                      lateral sclerosis from adrenomyeloneuropathy and hereditary
                      spastic paraplegia type 4.},
      journal      = {Amyotrophic lateral sclerosis $\&$ frontotemporal
                      degeneration},
      volume       = {27},
      number       = {1-2},
      issn         = {2167-8421},
      address      = {Abingdon},
      publisher    = {Taylor Francis Group},
      reportid     = {DZNE-2026-00158},
      pages        = {110 - 117},
      year         = {2026},
      abstract     = {Neurodegenerative upper motor neuron (UMN) syndromes
                      ranging from primary lateral sclerosis (PLS) to pure and
                      complicated types of hereditary spastic paraplegia (HSP)
                      remain challenging to differentiate clinically, especially
                      in the early stages of disease. As they share the hallmark
                      of spastic paraparesis, easily accessible biomarkers are
                      warranted to facilitate an early diagnosis.We examined serum
                      neurofilament light chain (sNfL) and serum glial fibrillary
                      acidic protein (sGFAP) as diagnostic biomarkers to
                      differentiate PLS from HSP, represented by two paradigmatic
                      subtypes: SPG4, the most common type of pure HSP, and
                      adrenomyeloneuropathy (AMN), a common complicated form of
                      HSP. In addition to sNfL and sGFAP raw levels, we used
                      age-adjusted z-scores to account for age-related biomarker
                      level increases.In our cohort of 18 PLS patients, 18 AMN
                      patients, 25 SPG4 patients and 60 controls, sNfL z-scores
                      were higher in PLS than in SPG4 (p < 0.001), AMN (p = 0.03),
                      and controls (p < 0.001). Furthermore, sNfL z-scores allowed
                      distinguishing PLS from SPG4 (AUC 0.82, $95\%$ CI 0.67-0.98)
                      and-slightly less accurate-from AMN (AUC 0.77, $95\%$ CI
                      0.60-0.95). sGFAP z-scores did not differ significantly
                      between groups.Our study suggests that serum NfL, but not
                      GFAP, is a potential diagnostic biomarker in degenerative
                      UMN diseases and may help to differentiate PLS from pure and
                      complicated forms of HSP. Our results indicate that axonal
                      degeneration-the source of NfL release-is predominant over
                      astrocytic pathology-the source of GFAP release-in PLS, AMN,
                      and SPG4.},
      keywords     = {Humans / Male / Female / Middle Aged / Spastic Paraplegia,
                      Hereditary: blood / Spastic Paraplegia, Hereditary:
                      diagnosis / Neurofilament Proteins: blood / Glial Fibrillary
                      Acidic Protein: blood / Adult / Adrenoleukodystrophy: blood
                      / Adrenoleukodystrophy: diagnosis / Biomarkers: blood /
                      Diagnosis, Differential / Aged / Young Adult / Cohort
                      Studies / Biomarker (Other) / GFAP (Other) / HSP (Other) /
                      NfL (Other) / PLS (Other) / Neurofilament Proteins (NLM
                      Chemicals) / Glial Fibrillary Acidic Protein (NLM Chemicals)
                      / neurofilament protein L (NLM Chemicals) / Biomarkers (NLM
                      Chemicals) / GFAP protein, human (NLM Chemicals)},
      cin          = {AG Gasser / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40961460},
      doi          = {10.1080/21678421.2025.2557936},
      url          = {https://pub.dzne.de/record/285033},
}