The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
1 retracted
Okamoto, M., Takeshita, J., Takahashi, K., Tanaka, A., Yoshida, K., & Kuriyama, M. (2017) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-001072 · Cited by 5
RetractedMicroglia in neurodegenerative disease
Perry, V. H., Nicoll, J. A. R., & Holmes, C. (2010) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.17 · Cited by 1,543
Microglia and brain macrophages in the molecular age: from origin to neuropsychiatric disease
Prinz, M., & Priller, J. (2014) · Nature Reviews Neuroscience · doi:10.1038/nrn3722 · Cited by 1,329
CSF-1 regulation of the wandering macrophage: complexity in action
Pixley, F. J., & Stanley, E. R. (2004) · Trends in Cell Biology · doi:10.1016/j.tcb.2004.09.016 · Cited by 807
Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.1027 · Cited by 571
Self-citationvan der Knaap, M. S., & Bugiani, M. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1739-1 · Cited by 403
Emerging Roles for CSF-1 Receptor and its Ligands in the Nervous System
Chiţu, V., Gökhan, Ş., Nandi, S., Mehler, M. F., & Stanley, E. R. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.03.005 · Cited by 365
Marras, C., Lang, A. E., van de Warrenburg, B. P. C., Sue, C. M., Tabrizi, S. J., Bertram, L., Mercimek‐Andrews, S., Ebrahimi‐Fakhari, D., Warner, T. T., Dürr, A., et al. (2016) · Movement Disorders · doi:10.1002/mds.26527 · Cited by 285
Case definition and classification of leukodystrophies and leukoencephalopathies
Vanderver, A. L., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J. Y., Eichler, F., Labauge, P. M., Aubourg, P. R., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.01.006 · Cited by 263
Novel (ovario) leukodystrophy related to AARS2 mutations
Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L.-J. C., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000497 · Cited by 215
Research works printed but not linked: 2
- Van Bogaert L, Nyssen R. Le type tardif de la leukodystrophie progressive familiale. Rev Neurol 1936;65:21–45.
- Imai T, Kato B, Ohshima J, Hasegawa Y. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) carrying a novel CSF1R mutation (p.Phe758Ser) with characteristic brain calcifications: a case report. Neurol Med 2017;87:670–675.
Cited by
Sorted by citations
Tissue-specific macrophages: how they develop and choreograph tissue biology
Mass, E., Nimmerjahn, F., Kierdorf, K., & Schlitzer, A. (2023) · Nature Reviews Immunology · doi:10.1038/s41577-023-00848-y · Cited by 621
The M-CSF receptor in osteoclasts and beyond
Mun, S. H., Park, P. S. U., & Park‐Min, K. (2020) · Experimental & Molecular Medicine · doi:10.1038/s12276-020-0484-z · Cited by 257
Uncovering sex differences of rodent microglia
Han, J., Fan, Y., Zhou, K., Blomgren, K., & Harris, R. A. (2021) · Journal of Neuroinflammation · doi:10.1186/s12974-021-02124-z · Cited by 224
Laurindo, L. F., Dias, J. A., Araújo, A. C., Pomini, K. T., Galhardi, C. M., Detregiachi, C. R. P., Haber, L. S. D. A., Roque, D. D., Bechara, M. D., de Castro, M. V. M., et al. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1305933 · Cited by 158
Phenotypic impacts of CSF1R deficiencies in humans and model organisms
Hume, D. A., Caruso, M., Ferrari-Cestari, M., SUMMERS, K. M., Pridans, C., & Irvine, K. M. (2019) · Journal of Leukocyte Biology · doi:10.1002/jlb.mr0519-143r · Cited by 127
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
