Abstract
Colony-stimulating factor-1 receptor-microglial encephalopathy is a rare rapidly progressive dementia resulting from colony-stimulating factor-1 receptor (CSF1R) mutations, also named pigmentary orthochromatic leukodystrophy (POLD), hereditary diffuse leukoencephalopathy with spheroids (HDLS), adult-onset leukoencephalopathy with axonal spheroids, and pigmented glia (ALSP) and CSF1R-related leukoencephalopathy. CSF1R is primarily expressed in microglia and mutations normally directly lead to changes in microglial number and function. Many animal models have been constructed to explore pathogenic mechanisms and potential therapeutic strategies, including zebrafish, mice, and rat models which are with CSF1R monogenic mutation, biallelic or tri-allelic deletion, or CSF1R-null. Although there is no cure for patients with CSF1R-microglial encephalopathy, microglial replacement therapy has become a topical research area. This review summarizes CSF1R-related pathogenetic mutation sites and mechanisms, especially the feasibility of the microglia-original immunotherapy.
Highlights
Colony-stimulating factor-1 receptor -microglial encephalopathy, microglia-original dementia, is a rare autosomal dominant disease caused by mutations in the colony-stimulating factor1 receptor (CSF1R) gene resulting in microglial dysfunction
colony-stimulating factor-1 receptor (CSF1R)-microglial encephalopathy typically presents as rapidly progressive dementia
CSF2 expression is increased in both the Csf1r± mice model and patients with CSF1R-microglial encephalopathy (Chitu et al, 2020)
Summary
Colony-stimulating factor-1 receptor -microglial encephalopathy, microglia-original dementia, is a rare autosomal dominant disease caused by mutations in the colony-stimulating factor1 receptor (CSF1R) gene resulting in microglial dysfunction. Many patients have typical ALSP clinical manifestations, including progressive cognitive decline, motor impairment, and mental behavioral abnormalities, but no CSF1R mutation (Lynch et al, 2016). Microglial dysfunction caused by mutations in the CSF1R gene has been put forward as the fundamental pathogenetic mechanism of this rare disease (Prinz and Priller, 2014).
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