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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 …
Contributors DSL and HH wrote the editorial together.
Funding This study was funded by the Medical Research Council, Wellcome Trust.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; internally peer reviewed.
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