AUTHOR=Wang Yan-Li , Wang Fang-Ze , Li Runzhi , Jiang Jiwei , Liu Xiangrong , Xu Jun 

TITLE=Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy

JOURNAL=Frontiers in Aging Neuroscience

VOLUME=13

YEAR=2021

URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2021.792840

DOI=10.3389/fnagi.2021.792840

ISSN=1663-4365

ABSTRACT=<p>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. <italic>CSF1R</italic> 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 <italic>CSF1R</italic> monogenic mutation, biallelic or tri-allelic deletion, or <italic>CSF1R</italic>-null. Although there is no cure for patients with CSF1R-microglial encephalopathy, microglial replacement therapy has become a topical research area. This review summarizes <italic>CSF1R</italic>-related pathogenetic mutation sites and mechanisms, especially the feasibility of the microglia-original immunotherapy.</p>