%0 Journal Article
%A Yska, Hemmo A F
%A Golse, Marianne
%A Beerepoot, Shanice
%A Hayer, Stefanie
%A Bergner, Caroline
%A de Paiva, Anderson Rodrigues Brandao
%A Marelli, Cecilia
%A Palacios, Natalia Julia
%A Osorio, Yudy Llamas
%A Huiban, Camille
%A Franke, Georg
%A Wortmann, Friederike
%A Holtick, Udo
%A Ayrignac, Xavier
%A van der Knaap, Marjo S
%A Schöls, Ludger
%A Perlbarg, Vincent
%A Galanaud, Damien
%A de Witte, Moniek A
%A Wolf, Nicole I
%A Nguyen, Stéphanie
%A Mochel, Fanny
%T Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
%J Movement disorders
%V 40
%N 9
%@ 0885-3185
%C New York, NY
%I Wiley
%M DZNE-2025-01151
%P 1826 - 1835
%D 2025
%X 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.
%K Humans
%K Hematopoietic Stem Cell Transplantation: methods
%K Male
%K Female
%K Adult
%K Middle Aged
%K Receptors, Granulocyte-Macrophage Colony-Stimulating Factor: genetics
%K Cohort Studies
%K Treatment Outcome
%K Receptor, Macrophage Colony-Stimulating Factor
%K CSF1R‐RD (Other)
%K adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (Other)
%K demyelination (Other)
%K hematopoietic stem cell transplantation (Other)
%K neurofilament light chain (Other)
%K neuroinflammation (Other)
%K Receptors, Granulocyte-Macrophage Colony-Stimulating Factor (NLM Chemicals)
%K CSF1R protein, human (NLM Chemicals)
%K Receptor, Macrophage Colony-Stimulating Factor (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40646711
%2 pmc:PMC12485588
%R 10.1002/mds.30282
%U https://pub.dzne.de/record/281533