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CSF1R -related leukoencephalopathy: A major player in primary microgliopathies
Open accessAbstract
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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“It has been discovered that autosomal dominant mutations in CSF1R, resulting in partial loss of function in CSF-1R signaling, are the major genetic cause of hereditary diffuse leukoencephalopathy with spheroids (HDLS) [22, 40, 44].”
From Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (2020) · cites this paper as [22]
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Metadata
- 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.
- Venue
- Neurology
- Published
- 2018-12-11
- Volume
- 91
- Issue
- 24
- Pages
- 1092-1104
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- 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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