Abstract
Objective: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurodegenerative disease characterized by the rapid progression of neurologic symptoms including frontotemporal dementia, pyramidal signs, and parkinsonism. The disease is associated with mutations of the colony stimulating factor 1 receptor (CSF1R) gene, which is critical for proper microglial function. Treatments targeting microglial restoration are now being investigated. We hypothesize that haematopoietic stem cell transplantation (HSCT) is an effective treatment for ALSP by replenishing a healthy microglial population.
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