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000281533 0247_ $$2doi$$a10.1002/mds.30282
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000281533 037__ $$aDZNE-2025-01151
000281533 041__ $$aEnglish
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000281533 1001_ $$aYska, Hemmo A F$$b0
000281533 245__ $$aHematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
000281533 260__ $$aNew York, NY$$bWiley$$c2025
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000281533 520__ $$aColony 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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000281533 650_7 $$2Other$$aCSF1R‐RD
000281533 650_7 $$2Other$$aadult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
000281533 650_7 $$2Other$$ademyelination
000281533 650_7 $$2Other$$ahematopoietic stem cell transplantation
000281533 650_7 $$2Other$$aneurofilament light chain
000281533 650_7 $$2Other$$aneuroinflammation
000281533 650_7 $$2NLM Chemicals$$aReceptors, Granulocyte-Macrophage Colony-Stimulating Factor
000281533 650_7 $$2NLM Chemicals$$aCSF1R protein, human
000281533 650_7 $$0EC 2.7.10.1$$2NLM Chemicals$$aReceptor, Macrophage Colony-Stimulating Factor
000281533 650_2 $$2MeSH$$aHumans
000281533 650_2 $$2MeSH$$aHematopoietic Stem Cell Transplantation: methods
000281533 650_2 $$2MeSH$$aMale
000281533 650_2 $$2MeSH$$aFemale
000281533 650_2 $$2MeSH$$aAdult
000281533 650_2 $$2MeSH$$aMiddle Aged
000281533 650_2 $$2MeSH$$aReceptors, Granulocyte-Macrophage Colony-Stimulating Factor: genetics
000281533 650_2 $$2MeSH$$aCohort Studies
000281533 650_2 $$2MeSH$$aTreatment Outcome
000281533 650_2 $$2MeSH$$aReceptor, Macrophage Colony-Stimulating Factor
000281533 7001_ $$aGolse, Marianne$$b1
000281533 7001_ $$aBeerepoot, Shanice$$b2
000281533 7001_ $$0P:(DE-2719)2813263$$aHayer, Stefanie$$b3$$udzne
000281533 7001_ $$aBergner, Caroline$$b4
000281533 7001_ $$00000-0002-8261-2275$$ade Paiva, Anderson Rodrigues Brandao$$b5
000281533 7001_ $$aMarelli, Cecilia$$b6
000281533 7001_ $$aPalacios, Natalia Julia$$b7
000281533 7001_ $$aOsorio, Yudy Llamas$$b8
000281533 7001_ $$aHuiban, Camille$$b9
000281533 7001_ $$aFranke, Georg$$b10
000281533 7001_ $$aWortmann, Friederike$$b11
000281533 7001_ $$aHoltick, Udo$$b12
000281533 7001_ $$aAyrignac, Xavier$$b13
000281533 7001_ $$avan der Knaap, Marjo S$$b14
000281533 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b15$$udzne
000281533 7001_ $$aPerlbarg, Vincent$$b16
000281533 7001_ $$aGalanaud, Damien$$b17
000281533 7001_ $$ade Witte, Moniek A$$b18
000281533 7001_ $$aWolf, Nicole I$$b19
000281533 7001_ $$aNguyen, Stéphanie$$b20
000281533 7001_ $$00000-0003-3970-3486$$aMochel, Fanny$$b21
000281533 7001_ $$aGroup, and the International CSF1R-RD Working$$b22$$eCollaboration Author
000281533 7001_ $$aKöhler, Wolfgang$$b23$$eContributor
000281533 7001_ $$aGarcia-Cazorla, Angeles$$b24$$eContributor
000281533 7001_ $$aSouchet, Laetitia$$b25$$eContributor
000281533 7001_ $$aChaumette, Boris$$b26$$eContributor
000281533 7001_ $$aBlanco, Bernardo$$b27$$eContributor
000281533 7001_ $$aBarbier, Magali$$b28$$eContributor
000281533 7001_ $$aStankoff, Bruno$$b29$$eContributor
000281533 7001_ $$aDubessy, Anne-Laure$$b30$$eContributor
000281533 7001_ $$aRobert-Varvat, Florence$$b31$$eContributor
000281533 7001_ $$aRiou, Audrey$$b32$$eContributor
000281533 7001_ $$aWeber, Sacha$$b33$$eContributor
000281533 7001_ $$aBender, Benjamin$$b34$$eContributor
000281533 7001_ $$aFegueux, Nathalie$$b35$$eContributor
000281533 7001_ $$aCeballos, Patrice$$b36$$eContributor
000281533 7001_ $$ade Champfleur, Nicolas Menjot$$b37$$eContributor
000281533 7001_ $$aLehmann, Sylvain$$b38$$eContributor
000281533 7001_ $$aCara-Dallière, Clarisse$$b39$$eContributor
000281533 7001_ $$aLabauge, Pierre$$b40$$eContributor
000281533 7001_ $$aLindemans, Caroline$$b41$$eContributor
000281533 7001_ $$aFreua, Fernando$$b42$$eContributor
000281533 7001_ $$aMariano, Livia$$b43$$eContributor
000281533 7001_ $$aLucato, Leandro Tavares$$b44$$eContributor
000281533 7001_ $$aFernandes, Gustavo Bruniera Peres$$b45$$eContributor
000281533 7001_ $$ade Gusmão, Claudio M$$b46$$eContributor
000281533 7001_ $$aFilho, José Ulysses Amigo$$b47$$eContributor
000281533 7001_ $$aKok, Fernando$$b48$$eContributor
000281533 7001_ $$aTuron, Laia$$b49$$eContributor
000281533 7001_ $$aBadell, Isabel$$b50$$eContributor
000281533 7001_ $$aTorija, Iván López$$b51$$eContributor
000281533 7001_ $$aGomez, Marta$$b52$$eContributor
000281533 773__ $$0PERI:(DE-600)2041249-6$$a10.1002/mds.30282$$gVol. 40, no. 9, p. 1826 - 1835$$n9$$p1826 - 1835$$tMovement disorders$$v40$$x0885-3185$$y2025
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