Cited by 222Neuroinflammation and Neurodegeneration MechanismsCerebrovascular and genetic disordersHereditary Neurological Disorders

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CSF1R -related leukoencephalopathy: A major player in primary microgliopathies

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Konno, Takuya, Kasanuki, Koji, Ikeuchi, Takeshi, Dickson, Dennis W., Wszolek, Zbigniew K.·2018·Neurology

DOI 10.1212/wnl.0000000000006642PMC PMC6329328

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Abstract

Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R-related leukoencephalopathy has been distinctly characterized clinically, radiologically, and pathologically. Typically, patients present with frontotemporal dementia-like phenotype in their 40s–50s, accompanied by motor symptoms, including pyramidal and extrapyramidal signs. Women tend to develop the clinical symptoms at a younger age than men. On brain imaging, in addition to white matter abnormalities, thinning of the corpus callosum, diffusion-restricted lesions in the white matter, and brain calcifications are hallmarks. Primary axonopathy followed by demyelination was suggested by pathology. Haploinsufficiency of colony-stimulating factor-1 receptor (CSF1R) is evident in a patient with a frameshift mutation, facilitating the establishment of Csf1r haploinsufficient mouse model. These mice develop clinical, radiologic, and pathologic phenotypes consistent with those of human patients with CSF1R mutations. In vitro, perturbation of CSF1R signaling is shown in cultured cells expressing mutant CSF1R. However, the underlying mechanisms by which CSF1R mutations selectively lead to white matter degeneration remains to be elucidated. Given that CSF1R mainly expresses in microglia, CSF1R-related leukoencephalopathy is representative of primary microgliopathies, of which microglia have a pivotal and primary role in pathogenesis. In this review, we address the current knowledge of CSF1R-related leukoencephalopathy and discuss the putative pathophysiology, with a focus on microglia, as well as future research directions.

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Additional file 7 of Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
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Additional file 2 of Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
Li, X., Hu, B., Xiaoyan, G., Wang, Z., Zhou, Y., Sun, H., Zhang, X., Li, Y., Huang, X., Zhao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26593163
Additional file 5 of An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Dorion, M.-F., Casas, D., Shlaifer, I., Yaqubi, M., Fleming, P., Karpilovsky, N. C., Chen, C. X. ‐., Nicouleau, M., Piscopo, V. E. C., MacDougall, E. J., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26702383
Additional file 3 of Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
Li, X., Hu, B., Xiaoyan, G., Wang, Z., Zhou, Y., Sun, H., Zhang, X., Li, Y., Huang, X., Zhao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26593166
Additional file 1 of An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Dorion, M.-F., Casas, D., Shlaifer, I., Yaqubi, M., Fleming, P., Karpilovsky, N. C., Chen, C. X. ‐., Nicouleau, M., Piscopo, V. E. C., MacDougall, E. J., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25546980
Additional file 1 of Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study
Pan, J., Forés-Martos, J., Nouh, C. D., Jensen, T. D., Vallejo, K., Cayrol, R., Ahmadian, S. S., Ashley, E. A., Greicius, M. D., & Cobos, I. (2024) · Figshare · doi:10.6084/m9.figshare.26944581
Additional file 1 of Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
Li, X., Hu, B., Xiaoyan, G., Wang, Z., Zhou, Y., Sun, H., Zhang, X., Li, Y., Huang, X., Zhao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26593160
Additional file 3 of An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Dorion, M.-F., Casas, D., Shlaifer, I., Yaqubi, M., Fleming, P., Karpilovsky, N. C., Chen, C. X. ‐., Nicouleau, M., Piscopo, V. E. C., MacDougall, E. J., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26702377
Additional file 2 of An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Dorion, M.-F., Casas, D., Shlaifer, I., Yaqubi, M., Fleming, P., Karpilovsky, N. C., Chen, C. X. ‐., Nicouleau, M., Piscopo, V. E. C., MacDougall, E. J., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25547144
Additional file 4 of Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
Li, X., Hu, B., Xiaoyan, G., Wang, Z., Zhou, Y., Sun, H., Zhang, X., Li, Y., Huang, X., Zhao, Y., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26593169
Additional file 4 of An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
Dorion, M.-F., Casas, D., Shlaifer, I., Yaqubi, M., Fleming, P., Karpilovsky, N. C., Chen, C. X. ‐., Nicouleau, M., Piscopo, V. E. C., MacDougall, E. J., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26702380
Additional file 1 of Identifying potential biomarkers for the diagnosis and treatment of IgA nephropathy based on bioinformatics analysis
Li, X., Zeng, M., Liu, J., Zhang, S., Liu, Y., Zhao, Y., Wei, C., Yang, K., Huang, Y., Zhang, L., et al. (2023) · Figshare · doi:10.6084/m9.figshare.22617907

Authors: Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K.
Affiliations: Mayo Clinic (US)
From the Departments of Neurology (T.K., Z.K.W.) and Neuroscience (K.K., D.W.D.), Mayo Clinic, Jacksonville, FL; and Department of Molecular Genetics (T.I.), Brain Research Institute, Niigata University, Niigata, Japan. Dr. Konno is currently with the Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
ORCID: Konno, Takuya
Kasanuki, Koji
Ikeuchi, Takeshi
Dickson, Dennis W.
Wszolek, Zbigniew K.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2018-12-11
Volume: 91
Issue: 24
Pages: 1092-1104
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.0000000000006642
PMC: PMC6329328
OpenAlex: W2901193227
Cited by: 208
References: 58
Citations by year: 2026: 20 · 2025: 27 · 2024: 40 · 2023: 30 · 2022: 27 · 2021: 34 · 2020: 19 · 2019: 10
FWCI: 1.49
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Neurology (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Health Sciences › Medicine › Clinical Neurology › Cerebrovascular and genetic disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: CSF1R-related leukoencephalopathy, CSF1R mutation, hereditary diffuse leukoencephalopathy with spheroids, haploinsufficiency, microglia, white matter degeneration, demyelination, frontotemporal dementia, corpus callosum thinning, cerebral calcification, CSF1R signaling, mouse model, pathophysiology
MeSH terms: Animals, Brain, Humans, Mutation, Receptor, Macrophage Colony-Stimulating Factor, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Microglia, Leukoencephalopathies

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CSF1R -related leukoencephalopathy: A major player in primary microgliopathies

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