Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.

Philip Wade TiptonDaniel Kenney-JungBeth K RushErik H MiddlebrooksDavid NasceneBalvindar SinghShernan HoltanErnesto AyalaDaniel F BroderickTroy LundZbigniew K Wszolek

Published in: Movement disorders : official journal of the Movement Disorder Society (2021)

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. © 2021 International Parkinson and Movement Disorder Society.

Keyphrases

end stage renal disease
case report
newly diagnosed
prognostic factors
peritoneal dialysis
single cell
patient reported outcomes
cerebrospinal fluid