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Stem cell transplant arrests decline in case of CSF1R leukoencephalopathy
  1. David S Lynch1,2,
  2. Henry Houlden3
  1. 1 Molecular Neuroscience, UCL Institute of Neurology, London, UK
  2. 2 Leonard Wolfson Experimental Neurology Centre, UCL Institute of Neurology, London, UK
  3. 3 Department of Neuromuscular Diseases and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
  1. Correspondence to Professor Henry Houlden, MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK; h.houlden{at}ucl.ac.uk

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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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