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We highlight the therapeutic importance of the paper by Mochel et al on stem cell transplant in CSF1R-related leukoencephalopathy
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive neurodegenerative disorder caused by mutations in Colony Stimulating Factor 1 Receptor (CSF1R). Patients typically present with a combination of cognitive decline, spasticity and ataxia with prominent leukoencephalopathy on imaging. Death occurs on average 6 years from first symptom onset, with affected individuals reported from age 18 to 78 years.1 2 Bi-allelic mutations in CSF1R, in which most are consistent with loss of function, cause a paediatric-onset leukoencephalopathy3 that can be associated with a skeletal dysplasia4 and on neuropathology, almost complete absence of microglia within the brain, suggesting a developmental absence of microglia. There is currently no effective therapy to halt …
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