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Rapid Communication | Open Access

Aging-related inflammatory and metabolic disorder in the novel mutation of colony-stimulating factor-1 receptor (csf1r)P853T/+ in CSF1R-microglial encephalopathy

Xiaohong Wanga,1Yanli Wangb,c,1Tianlin Jiangb,1Jiwei JiangbLinlin WangbShiyi YangbMengfan SunbYuan ZhangbZiyan JiabWenyi LibQiwei RenbCuicui ZhangdJianjian LiueYinwei ZhufMin ZhaobShirui JiangbHuiying ZhangbJinglong ChengJun Xub()
Institute of Translational Medicine, Medical College, Yangzhou University, Yangzhou, Jiangsu 225000, China
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China
School of Public Health, Shandong Second Medical University, Weifang, Shandong 261000, China
Department of Neurology, The Second Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu 221000, China
Department of Neurology, Fuxing Hospital, Capital Medical University, Beijing 100045, China
Department of Neurology, Changshu Hospital Affiliated to Soochow University/Changshu First People’s Hospital, Changshu, Jiangsu 215500, China
Department of Geriatric Medicine, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology, Guangzhou, China

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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References

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Konno T, Yoshida K, Mizuta I, et al. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2018;25(1):142–147.

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Papapetropoulos S, Pontius A, Finger E, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented Glia: review of clinical manifestations as foundations for therapeutic development. Front Neurol. 2022;12:788168.

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Oosterhof N, Kuil LE, van der Linde HC, et al. Colony-stimulating factor 1 receptor (CSF1R) regulates microglia density and distribution, but not microglia differentiation in vivo. Cell Rep. 2018;24(5):1203–1217.e6.

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Li X, Hu B, Guan X, et al. Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). J Neuroinflammation. 2023;20(1):134.

Genes & Diseases
Article number: 101289
Cite this article:
Wang X, Wang Y, Jiang T, et al. Aging-related inflammatory and metabolic disorder in the novel mutation of colony-stimulating factor-1 receptor (csf1r)P853T/+ in CSF1R-microglial encephalopathy. Genes & Diseases, 2025, 12(2): 101289. https://doi.org/10.1016/j.gendis.2024.101289
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