期刊
FRONTIERS IN AGING NEUROSCIENCE
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fnagi.2021.792840
关键词
CSF1R-microglial encephalopathy; microglia; dementia; mutation; pathophysiological mechanism; microglial replacement
Colony-stimulating factor-1 receptor-microglial encephalopathy is a rare rapidly progressive dementia caused by CSF1R mutations, primarily expressed in microglia. Current research focuses on exploring pathogenic mechanisms and potential therapeutic strategies, especially the feasibility of microglial replacement therapy.
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据