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@ARTICLE{Yska:281533,
      author       = {Yska, Hemmo A F and Golse, Marianne and Beerepoot, Shanice
                      and Hayer, Stefanie and Bergner, Caroline and de Paiva,
                      Anderson Rodrigues Brandao and Marelli, Cecilia and
                      Palacios, Natalia Julia and Osorio, Yudy Llamas and Huiban,
                      Camille and Franke, Georg and Wortmann, Friederike and
                      Holtick, Udo and Ayrignac, Xavier and van der Knaap, Marjo S
                      and Schöls, Ludger and Perlbarg, Vincent and Galanaud,
                      Damien and de Witte, Moniek A and Wolf, Nicole I and Nguyen,
                      Stéphanie and Mochel, Fanny},
      collaboration = {Group, and the International CSF1R-RD Working},
      othercontributors = {Köhler, Wolfgang and Garcia-Cazorla, Angeles and Souchet,
                          Laetitia and Chaumette, Boris and Blanco, Bernardo and
                          Barbier, Magali and Stankoff, Bruno and Dubessy, Anne-Laure
                          and Robert-Varvat, Florence and Riou, Audrey and Weber,
                          Sacha and Bender, Benjamin and Fegueux, Nathalie and
                          Ceballos, Patrice and de Champfleur, Nicolas Menjot and
                          Lehmann, Sylvain and Cara-Dallière, Clarisse and Labauge,
                          Pierre and Lindemans, Caroline and Freua, Fernando and
                          Mariano, Livia and Lucato, Leandro Tavares and Fernandes,
                          Gustavo Bruniera Peres and de Gusmão, Claudio M and Filho,
                          José Ulysses Amigo and Kok, Fernando and Turon, Laia and
                          Badell, Isabel and Torija, Iván López and Gomez, Marta},
      title        = {{H}ematopoietic {S}tem {C}ell {T}ransplantation in an
                      {I}nternational {C}ohort of {C}olony {S}timulating
                      {F}actor-1 {R}eceptor ({CSF}1{R})-{R}elated {D}isorder.},
      journal      = {Movement disorders},
      volume       = {40},
      number       = {9},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-01151},
      pages        = {1826 - 1835},
      year         = {2025},
      abstract     = {Colony stimulating factor-1 receptor (CSF1R)-related
                      disorder (CSF1R-RD) is an autosomal dominant, rapidly
                      progressive, demyelinating disease leading to death usually
                      within a few years. Because of the central role of CSF1R in
                      microglia functions, allogeneic hematopoietic stem cell
                      transplantation (HSCT) has been suggested as a therapy for
                      CSF1R-RD.To report multicenter clinical (Expanded Disability
                      Scoring Scale [EDSS]), neurocognitive), neuroimaging (Sundal
                      score), and biological (neurofilament light chain [NfL])
                      outcomes after HSCT in CSF1R-RD.We report an international
                      cohort of 17 adult patients (8 females/9 males, 43.3 ± 9.4
                      years) who were treated in seven transplant centers.
                      Patients were evaluated for a median of 2.5 years post-HSCT,
                      including one patient with follow-up of 8 years. We also
                      report neurological outcomes of the first child transplanted
                      to date with biallelic CSF1R variants.In the first 6 months
                      post-HSCT, 2 patients died from early complications of
                      myeloablative transplantation, and clinical and radiological
                      severity scores worsened in most surviving adult patients.
                      At 12 months post-HSCT, most patients completely stabilized
                      or improved in certain clinical domains. Radiological scores
                      fully stabilized or slightly improved in all but one of the
                      patients. Plasma/serum NfL sharply decreased in most
                      patients after transplantation. Notably, 7/8 adult patients
                      who received a reduced-intensity conditioning regimen
                      displayed similar neurological outcomes as patients who
                      underwent myeloablative transplantation.After an initial
                      clinical and radiological deterioration in the first 6
                      months post-transplantation, HSCT can halt disease
                      progression in patients with CSF1R-RD, regardless of their
                      presenting clinical symptoms. The possibility of reduced
                      conditioning regimens in CSF1R-RD opens the way to treat
                      older patients. © 2025 The Author(s). Movement Disorders
                      published by Wiley Periodicals LLC on behalf of
                      International Parkinson and Movement Disorder Society.},
      keywords     = {Humans / Hematopoietic Stem Cell Transplantation: methods /
                      Male / Female / Adult / Middle Aged / Receptors,
                      Granulocyte-Macrophage Colony-Stimulating Factor: genetics /
                      Cohort Studies / Treatment Outcome / Receptor, Macrophage
                      Colony-Stimulating Factor / CSF1R‐RD (Other) /
                      adult‐onset leukoencephalopathy with axonal spheroids and
                      pigmented glia (Other) / demyelination (Other) /
                      hematopoietic stem cell transplantation (Other) /
                      neurofilament light chain (Other) / neuroinflammation
                      (Other) / Receptors, Granulocyte-Macrophage
                      Colony-Stimulating Factor (NLM Chemicals) / CSF1R protein,
                      human (NLM Chemicals) / Receptor, Macrophage
                      Colony-Stimulating Factor (NLM Chemicals)},
      cin          = {AG Jucker / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210001 / I:(DE-2719)5000005},
      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:40646711},
      pmc          = {pmc:PMC12485588},
      doi          = {10.1002/mds.30282},
      url          = {https://pub.dzne.de/record/281533},
}