References
- Axelsson, R., Röyttä, M., Sourander, P., Akesson, H. O., & Andersen, O. (1984). Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatrica Scandinavica Supplementum, 314, 1–65.
- Baba, Y., Ghetti, B., Baker, M. C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., Bird, T., Lin, W., DeLucia, M. W., Dickson, D. W., & Wszolek, Z. K. (2006). Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred. Acta Neuropathologica, 111(4), 300–311. https://doi.org/https://doi.org/10.1007/s00401-006-0046-z
- Delaney, C., Farrell, M., Doherty, C. P., Brennan, K., O’Keeffe, E., Greene, C., Byrne, K., Kelly, E., Birmingham, N., Hickey, P., Cronin, S., Savvides, S. N., Doyle, S. L., & Campbell, M. (2021). Attenuated CSF-1R signalling drives cerebrovascular pathology. EMBO Molecular Medicine, 13(2), e12889. https://doi.org/https://doi.org/10.15252/emmm.202012889
- Easley-Neal, C., Foreman, O., Sharma, N., Zarrin, A. A., & Weimer, R. M. (2019). CSF1R ligands IL-34 and CSF1 are differentially required for microglia development and maintenance in white and gray matter brain regions. Frontiers in Immunology, 10, 2199. https://doi.org/https://doi.org/10.3389/fimmu.2019.02199
- Eichler, F. S., Li, J., Guo, Y., Caruso, P. A., Bjonnes, A. C., Pan, J., Booker, J. K., Lane, J. M., Tare, A., Vlasac, I., Hakonarson, H., Gusella, J. F., Zhang, J., Keating, B. J., & Saxena, R. (2016). CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain: A Journal of Neurology, 139, 1666–1672. https://doi.org/https://doi.org/10.1093/brain/aww066
- Foulds, N., Pengelly, R. J., Hammans, S. R., Nicoll, J. A., Ellison, D. W., Ditchfield, A., Beck, S., & Ennis, S. (2015). Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel R782G mutation in CSF1R. Scientific Reports, 5, 10042. https://doi.org/https://doi.org/10.1038/srep10042
- Han, J., Sarlus, H., Wszolek, Z. K., Karrenbauer, V. D., & Harris, R. A. (2020). Microglial replacement therapy: A potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy. Acta Neuropathologica Communications, 8(1), 217. https://doi.org/https://doi.org/10.1186/s40478-020-01093-3
- Huang, H., Cao, L., & Chen, H. (2021). Dynamic analysis of CSF1R-related leukoencephalopathy on magnetic resonance imaging: A case report. BMC Neurology, 21(1), 156. https://doi.org/https://doi.org/10.1186/s12883-021-02182-z
- Karle, K. N., Biskup, S., Schüle, R., Schweitzer, K. J., Krüger, R., Bauer, P., Bender, B., Nägele, T., & Schöls, L. (2013). De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology, 81(123), 2039–2044. https://doi.org/https://doi.org/10.1212/01.wnl.0000436945.01023.ac
- Kondo, Y., Kinoshita, M., Fukushima, K., Yoshida, K., & Ikeda, S. (2013). Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Internal Medicine (Tokyo, Japan), 52(4), 503–506. https://doi.org/https://doi.org/10.2169/internalmedicine.52.8879
- Konno, T., Broderick, D. F., Mezaki, N., Isami, A., Kaneda, D., Tashiro, Y., Tokutake, T., Keegan, B. M., Woodruff, B. K., Miura, T., Nozaki, H., Nishizawa, M., Onodera, O., Wszolek, Z. K., & Ikeuchi, T. (2017). Diagnostic value of brain calcifications in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. AJNR. American Journal of Neuroradiology, 38(1), 77–83. https://doi.org/https://doi.org/10.3174/ajnr.A4938
- Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K. (2018). CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. Neurology, 91(124), 1092–1104. https://doi.org/https://doi.org/10.1212/WNL.0000000000006642
- Konno, T., Yoshida, K., Mizuta, I., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S. I., Onodera, O., Wszolek, Z. K., & Ikeuchi, T. (2018). Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. European Journal of Neurology, 25(1), 142–147. https://doi.org/https://doi.org/10.1111/ene.13464
- Mochel, F., Delorme, C., Czernecki, V., Froger, J., Cormier, F., Ellie, E., Fegueux, N., Lehéricy, S., Lumbroso, S., Schiffmann, R., Aubourg, P., Roze, E., Labauge, P., & Nguyen, S. (2019). Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Journal of Neurology, Neurosurgery, and Psychiatry, 90(12), 1375–1376. https://doi.org/https://doi.org/10.1136/jnnp-2019-320701
- Nicholson, A. M., Baker, M. C., Finch, N. A., Rutherford, N. J., Wider, C., Graff-Radford, N. R., Nelson, P. T., Clark, H. B., Wszolek, Z. K., Dickson, D. W., Knopman, D. S., & Rademakers, R. (2013). CSF1R mutations link POLD and HDLS as a single disease entity. Neurology, 80(11), 1033–1040. https://doi.org/https://doi.org/10.1212/WNL.0b013e31828726a7
- Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., Adamson, J., Kouri, N., Sundal, C., Shuster, E. A., Aasly, J., MacKenzie, J., Roeber, S., Kretzschmar, H. A., Boeve, B. F., … Wszolek, Z. K. (2011). Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics, 44(2), 200–205. https://doi.org/https://doi.org/10.1038/ng.1027
- Saitoh, B. Y., Yamasaki, R., Hayashi, S., Yoshimura, S., Tateishi, T., Ohyagi, Y., Murai, H., Iwaki, T., Yoshida, K., & Kira, J. (2013). A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Multiple Sclerosis, 19(10), 1367–1370. https://doi.org/https://doi.org/10.1177/1352458513489854
- Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., Spina, S., Ghetti, B., Roeber, S., Garbern, J., Borjesson-Hanson, A., Tselis, A., Swerdlow, R. H., Miller, B. B., Fujioka, S., Heckman, M. G., Uitti, R. J., Josephs, K. A., Baker, M., … Wszolek, Z. K. (2012). MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology, 79(6), 566–574. https://doi.org/https://doi.org/10.1212/WNL.0b013e318263575a
- Terada, S., Ishizu, H., Yokota, O., Ishihara, T., Nakashima, H., Kugo, A., Tanaka, Y., Nakashima, T., Nakashima, Y., & Kuroda, S. (2004). An autopsy case of hereditary diffuse leukoencephalopathy with spheroids, clinically suspected of Alzheimer’s disease. Acta Neuropathologica, 108(6), 538–545. https://doi.org/https://doi.org/10.1007/s00401-004-0920-5
- Wong, J. C., Chow, T. W., & Hazrati, L. N. (2011). Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia can present as frontotemporal dementia syndrome. Dementia and Geriatric Cognitive Disorders, 32(2), 150–158. https://doi.org/https://doi.org/10.1159/000331422