TY  - JOUR
AU  - Yska, Hemmo A F
AU  - Golse, Marianne
AU  - Beerepoot, Shanice
AU  - Hayer, Stefanie
AU  - Bergner, Caroline
AU  - de Paiva, Anderson Rodrigues Brandao
AU  - Marelli, Cecilia
AU  - Palacios, Natalia Julia
AU  - Osorio, Yudy Llamas
AU  - Huiban, Camille
AU  - Franke, Georg
AU  - Wortmann, Friederike
AU  - Holtick, Udo
AU  - Ayrignac, Xavier
AU  - van der Knaap, Marjo S
AU  - Schöls, Ludger
AU  - Perlbarg, Vincent
AU  - Galanaud, Damien
AU  - de Witte, Moniek A
AU  - Wolf, Nicole I
AU  - Nguyen, Stéphanie
AU  - Mochel, Fanny
TI  - Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
JO  - Movement disorders
VL  - 40
IS  - 9
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - DZNE-2025-01151
SP  - 1826 - 1835
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Hematopoietic Stem Cell Transplantation: methods
KW  - Male
KW  - Female
KW  - Adult
KW  - Middle Aged
KW  - Receptors, Granulocyte-Macrophage Colony-Stimulating Factor: genetics
KW  - Cohort Studies
KW  - Treatment Outcome
KW  - Receptor, Macrophage Colony-Stimulating Factor
KW  - CSF1R‐RD (Other)
KW  - adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (Other)
KW  - demyelination (Other)
KW  - hematopoietic stem cell transplantation (Other)
KW  - neurofilament light chain (Other)
KW  - neuroinflammation (Other)
KW  - Receptors, Granulocyte-Macrophage Colony-Stimulating Factor (NLM Chemicals)
KW  - CSF1R protein, human (NLM Chemicals)
KW  - Receptor, Macrophage Colony-Stimulating Factor (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40646711
C2  - pmc:PMC12485588
DO  - DOI:10.1002/mds.30282
UR  - https://pub.dzne.de/record/281533
ER  -