Home > Publications Database > Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder. > print

001     281533
005     20251218103439.0
024 7 _ |a 10.1002/mds.30282
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024 7 _ |a 0885-3185
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024 7 _ |a 1531-8257
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037 _ _ |a DZNE-2025-01151
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Yska, Hemmo A F
|b 0
245 _ _ |a Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
260 _ _ |a New York, NY
|c 2025
|b Wiley
336 7 _ |a article
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336 7 _ |a ARTICLE
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520 _ _ |a 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.
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650 _ 7 |a CSF1R‐RD
|2 Other
650 _ 7 |a adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
|2 Other
650 _ 7 |a demyelination
|2 Other
650 _ 7 |a hematopoietic stem cell transplantation
|2 Other
650 _ 7 |a neurofilament light chain
|2 Other
650 _ 7 |a neuroinflammation
|2 Other
650 _ 7 |a Receptors, Granulocyte-Macrophage Colony-Stimulating Factor
|2 NLM Chemicals
650 _ 7 |a CSF1R protein, human
|2 NLM Chemicals
650 _ 7 |a Receptor, Macrophage Colony-Stimulating Factor
|0 EC 2.7.10.1
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Hematopoietic Stem Cell Transplantation: methods
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Receptors, Granulocyte-Macrophage Colony-Stimulating Factor: genetics
|2 MeSH
650 _ 2 |a Cohort Studies
|2 MeSH
650 _ 2 |a Treatment Outcome
|2 MeSH
650 _ 2 |a Receptor, Macrophage Colony-Stimulating Factor
|2 MeSH
700 1 _ |a Golse, Marianne
|b 1
700 1 _ |a Beerepoot, Shanice
|b 2
700 1 _ |a Hayer, Stefanie
|0 P:(DE-2719)2813263
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700 1 _ |a Bergner, Caroline
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700 1 _ |a de Paiva, Anderson Rodrigues Brandao
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700 1 _ |a Marelli, Cecilia
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700 1 _ |a Palacios, Natalia Julia
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700 1 _ |a Osorio, Yudy Llamas
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700 1 _ |a Huiban, Camille
|b 9
700 1 _ |a Franke, Georg
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700 1 _ |a Wortmann, Friederike
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700 1 _ |a Holtick, Udo
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700 1 _ |a Ayrignac, Xavier
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700 1 _ |a van der Knaap, Marjo S
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700 1 _ |a Schöls, Ludger
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700 1 _ |a Perlbarg, Vincent
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700 1 _ |a Galanaud, Damien
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700 1 _ |a de Witte, Moniek A
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700 1 _ |a Wolf, Nicole I
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700 1 _ |a Nguyen, Stéphanie
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700 1 _ |a Mochel, Fanny
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700 1 _ |a Group, and the International CSF1R-RD Working
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700 1 _ |a Köhler, Wolfgang
|b 23
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700 1 _ |a Garcia-Cazorla, Angeles
|b 24
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700 1 _ |a Souchet, Laetitia
|b 25
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700 1 _ |a Chaumette, Boris
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700 1 _ |a Blanco, Bernardo
|b 27
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700 1 _ |a Barbier, Magali
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700 1 _ |a Stankoff, Bruno
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700 1 _ |a Dubessy, Anne-Laure
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700 1 _ |a Robert-Varvat, Florence
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700 1 _ |a Riou, Audrey
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700 1 _ |a Weber, Sacha
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700 1 _ |a Bender, Benjamin
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700 1 _ |a Fegueux, Nathalie
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700 1 _ |a Ceballos, Patrice
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700 1 _ |a de Champfleur, Nicolas Menjot
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700 1 _ |a Lehmann, Sylvain
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700 1 _ |a Cara-Dallière, Clarisse
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700 1 _ |a Labauge, Pierre
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700 1 _ |a Lindemans, Caroline
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700 1 _ |a Freua, Fernando
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700 1 _ |a Mariano, Livia
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700 1 _ |a Lucato, Leandro Tavares
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700 1 _ |a Fernandes, Gustavo Bruniera Peres
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700 1 _ |a de Gusmão, Claudio M
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700 1 _ |a Filho, José Ulysses Amigo
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700 1 _ |a Kok, Fernando
|b 48
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700 1 _ |a Turon, Laia
|b 49
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700 1 _ |a Badell, Isabel
|b 50
|e Contributor
700 1 _ |a Torija, Iván López
|b 51
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700 1 _ |a Gomez, Marta
|b 52
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773 _ _ |a 10.1002/mds.30282
|g Vol. 40, no. 9, p. 1826 - 1835
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