This study reports outcomes of hematopoietic stem cell transplantation (HSCT) in an international cohort of patients with CSF1R-related disorder, a rare adult-onset leukoencephalopathy characterized by progressive neurodegeneration. The results suggest that HSCT may stabilize or slow disease progression in selected patients, particularly when performed at an early stage, although responses are variable. The study highlights the importance of careful patient selection, timing of intervention, and multidisciplinary evaluation, while also emphasizing the need for further data to better define efficacy and long-term outcomes.
Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
· 7 April 2026
Yska HAF, Golse M, Beerepoot S, Hayer S, Bergner C, de Paiva ARB, Marelli C, Palacios NJ, Osorio YL, Huiban C, Franke G, Wortmann F, Holtick U, Ayrignac X, van der Knaap MS, Schöls L, Perlbarg V, Galanaud D, de Witte MA, Wolf NI, Nguyen S, Mochel F; and the International CSF1R‐RD Working Group.
Mov Disord. 2025 Sep;40(9):1826-1835. doi: 10.1002/mds.30282. Epub 2025 Jul 11. PMID: 40646711; PMCID: PMC12485588.