TY - JOUR T1 - Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1306 LP - 1306 DO - 10.1136/jnnp-2019-321021 VL - 90 IS - 12 AU - David S Lynch AU - Henry Houlden Y1 - 2019/12/01 UR - http://jnnp.bmj.com/content/90/12/1306.abstract N2 - 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 … ER -