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@ARTICLE{vanVoorst:282299,
      author       = {van Voorst, Romy J and Schoenmakers, Daphne H and
                      Bonkowsky, Joshua L and Vanderver, Adeline and
                      Krägeloh-Mann, Ingeborg and Bernard, Geneviève and
                      Bertini, Enrico and Fatemi, Ali and Sgobbi, Paulo V and
                      Wolf, Nicole I and Groeschel, Samuel and Tonduti, Davide and
                      Sevin, Caroline and Orthmann-Murphy, Jennifer L and Schöls,
                      Ludger and Salsano, Ettore and Brais, Bernard and Jaffe,
                      Nicole and Ter Horst, Kasper W and Hannema, Sabine E and
                      Hayes, Katherine G and Meyburg, Jochen and van Heerde, Marc
                      and Sbrocchi, Anne Marie and van Spaendonk, Rosalina and
                      Thiffault, Isabelle and Hofsteenge, Geesje H and
                      Sudmeier-Broek, Carolina and Timmer, Corrie and Skwirut,
                      Donna and Buck, Allyson and Hollberg, Bret and Chapleau, Ron
                      and Dekker, Hanka and Campbell, Susan G and Abbink, Truus E
                      M and Leferink, Prisca S and van der Knaap, Marjo S},
      title        = {{C}onsensus-{B}ased {E}xpert {R}ecommendations for
                      {D}iagnosis and {C}linical {M}anagement of {V}anishing
                      {W}hite {M}atter.},
      journal      = {Neurology},
      volume       = {105},
      number       = {11},
      issn         = {0028-3878},
      address      = {Philadelphia, Pa.},
      publisher    = {Wolters Kluwer},
      reportid     = {DZNE-2025-01269},
      pages        = {e214320},
      year         = {2025},
      abstract     = {Vanishing white matter (VWM) is a rare disorder,
                      characterized by degeneration of CNS white matter,
                      clinically often exacerbated by stressors such as fever and
                      minor head trauma. VWM is caused by biallelic pathogenic
                      variants in the EIF2B1-5 genes, causing reduced activity of
                      eukaryotic initiation of translation factor 2B, resulting in
                      dysregulation of the integrated stress response (ISR). New
                      scientific insights and increased clinical trials in
                      experimental therapies highlight the need for clinical
                      guidelines to improve and standardize care for patients with
                      VWM worldwide. Standardized care is important for therapy
                      development, as it lessens clinical variability of trial
                      participants at study entry, enabling more sensitive
                      evaluation of treatment outcomes. The aim of this study was
                      to develop expert consensus-based recommendations for
                      diagnosis and management of VWM. A real-time Delphi process
                      with a multidisciplinary expert panel was conducted to
                      formulate consensus-based recommendations. A literature
                      review was performed to determine the strength of available
                      evidence supporting each recommendation. The consensus
                      yielded 43 recommendations on diagnosis, including genetic
                      and MRI criteria, and on clinical management concerning
                      disease progression, acute and long-term care, and
                      preventive strategies. All known pathogenic and likely
                      pathogenic EIF2B1-5 variants were identified from the
                      literature and Amsterdam Leukodystrophy Center laboratory.
                      An overview of these EIF2B1-5 variants was composed to
                      facilitate diagnosis. Clinically used drugs may activate the
                      ISR, posing a risk in VWM, or have no effect on or suppress
                      the ISR, being probably safe in VWM. A second literature
                      search explored the effects of clinically frequently used
                      drugs on the ISR. Drugs were categorized into those likely
                      to activate the ISR, suppress it, and have no likely effects
                      on the ISR. Final judgment was achieved in a consensus
                      meeting of experts. A patient management card was developed
                      with input from clinical experts and patient advocates to
                      provide information on these consensus-based recommendations
                      in lay language and bridge the gap between scientific
                      evidence and expert opinion on one side and the practical
                      needs of clinicians and families on the other side. This
                      study contributes to improving and standardizing VWM care
                      based on scientific and expert insights, while highlighting
                      key areas for future research.},
      subtyp        = {Review Article},
      keywords     = {Humans / Leukoencephalopathies: therapy /
                      Leukoencephalopathies: diagnosis / Leukoencephalopathies:
                      genetics / Consensus / Disease Management / Delphi Technique
                      / Eukaryotic Initiation Factor-2B: genetics / Magnetic
                      Resonance Imaging / White Matter: diagnostic imaging /
                      Eukaryotic Initiation Factor-2B (NLM Chemicals)},
      cin          = {AG Schöls},
      ddc          = {610},
      cid          = {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:41232062},
      pmc          = {pmc:PMC12615013},
      doi          = {10.1212/WNL.0000000000214320},
      url          = {https://pub.dzne.de/record/282299},
}