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@ARTICLE{deBoer:273943,
      author       = {de Boer, Eva M J and de Vries, Bálint S and Van Hecke, Wim
                      and Mühlebner, Angelika and Vincken, Koen L and Mol,
                      Christian P and van Rheenen, Wouter and Westeneng, Henk-Jan
                      and Veldink, Jan H and Höglinger, Günter U and Morris, Huw
                      R and Litvan, Irene and Raaphorst, Joost and Ticozzi, Nicola
                      and Corcia, Philippe and Vandenberghe, Wim and Pijnenburg,
                      Yolande A L and Seelaar, Harro and Ingre, Caroline and Van
                      Damme, Philip and van den Berg, Leonard H and van de
                      Warrenburg, Bart P C and van Es, Michael A},
      title        = {{D}iagnosing primary lateral sclerosis: a
                      clinico-pathological study.},
      journal      = {Journal of neurology},
      volume       = {272},
      number       = {1},
      issn         = {0367-004X},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2024-01417},
      pages        = {46},
      year         = {2025},
      abstract     = {Primary lateral sclerosis (PLS) is a rare motor neuron
                      disease characterized by upper motor neuron degeneration,
                      diagnosed clinically due to the absence of a
                      (neuropathological) gold standard. Post-mortem studies,
                      particularly TDP-43 pathology analysis, are limited.This
                      study reports on 5 cases in which the diagnostic criteria
                      for PLS were met, but in which neuropathology findings
                      showed (partially) conflicting results. These discrepancies
                      prompted us to perform a clinico-pathology study focussing
                      on diagnostic challenges and accuracy in PLS. To this end,
                      all cases were reviewed by an international panel of 11
                      experts using an e-module and structured
                      questionnaires.Autopsy exhibited neuropathological findings
                      consistent with amyotrophic lateral sclerosis (ALS) in one
                      case, while two cases exhibited similar, but more limited
                      lower motor neuron involvement, hinting at PLS or ALS
                      overlap. Another case displayed tau-pathology indicative of
                      progressive supranuclear palsy. The final case displayed
                      extensive myelin loss without a proteinopathy or a clear
                      diagnosis. The expert panel identified 24 different
                      ancillary investigations lacking across cases (e.g. genetic
                      testing, DAT scans, neuropsychological evaluation), listed
                      28 differential diagnoses, and identified 13 different
                      conditions as the most likely diagnosis. Autopsy results led
                      panel members to change their final diagnosis in $42\%$ of
                      the cases.This study underscores the diagnostic challenges
                      posed by diverse underlying pathologies resulting in upper
                      motor neuron phenotypes. Despite adhering to the same
                      diagnostic criteria, consensus amongst experts was limited.
                      Ensuring the diagnostic consistency is crucial for advancing
                      understanding and treatment of PLS. Explicit guidelines for
                      excluding potential mimics along with a neuropathological
                      gold standard are imperative.},
      keywords     = {Humans / Male / Aged / Female / Middle Aged / Motor Neuron
                      Disease: diagnosis / Motor Neuron Disease: pathology /
                      Autopsy / Amyotrophic Lateral Sclerosis: diagnosis /
                      Amyotrophic Lateral Sclerosis: pathology / Amyotrophic
                      Lateral Sclerosis: genetics / Diagnosis, Differential /
                      Aged, 80 and over / Brain: pathology / Brain: diagnostic
                      imaging / DNA-Binding Proteins / Amyotrophic lateral
                      sclerosis (Other) / Neuropathology (Other) / Primary lateral
                      sclerosis (Other) / TDP-43 (Other) / Tau (Other) / TARDBP
                      protein, human (NLM Chemicals) / DNA-Binding Proteins (NLM
                      Chemicals)},
      cin          = {Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39666071},
      doi          = {10.1007/s00415-024-12816-0},
      url          = {https://pub.dzne.de/record/273943},
}