Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground

Philip W. Tipton, Daniel Kenney-Jung, Beth K. Rush, Erik H. Middlebrooks, David Nascene, Balvindar Singh, Shernan Holtan, Ernesto Ayala, Daniel F. Broderick, Troy Lund, Zbigniew K. Wszolek

Research output: Contribution to journalArticlepeer-review


Background: Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressive neurodegenerative disease for which there is currently no cure. Hematopoietic stem cell transplantation (HSCT) has been proposed as a disease-modifying treatment. Objective: The objective of this study was to determine the effect of HSCT on disease progression. Methods: We collected all available clinical data from a cohort of 7 patients with CSF1R-related leukoencephalopathy who underwent HSCT at our institutions. Clinical data included detailed neurological examination by a board-certified neurologist, serial cognitive screens, formal neuropsychological evaluations, and serial brain magnetic resonance imaging (MRI). Results: Our patients had an average disease duration of 27.6 months at the time of transplant, and we have 87 months of total posttransplant follow-up time (median, 11; range, 2–27). One patient died in the periprocedural period. The remaining patients showed a variable response to treatment, with 6 of 7 patients trending toward stabilization on motor examination, cognitive scores, and/or MRI abnormalities, especially with white matter lesion burden. Conclusions: This is the largest series of patients with CSF1R-related leukoencephalopathy receiving HSCT. We conclude that HSCT can stabilize the disease in some patients. Variability in patient responsiveness suggests that measures of disease heterogeneity and severity need to be considered when evaluating a patient's candidacy for transplant. HSCT appears to be the first disease-modifying therapy for CSF1R-related leukoencephalopathy. This milestone may serve as a foothold toward better understanding the disease's pathomechanism, thus providing new opportunities for better disease-specific therapies.

Original languageEnglish (US)
Pages (from-to)2901-2909
Number of pages9
JournalMovement Disorders
Issue number12
StatePublished - Dec 2021


  • CSF1R-related leukoencephalopathy
  • microglia
  • transplant

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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