Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF 1R mutation
Open accessAbstract
Background and purpose: The clinical characteristics of colony stimulating factor 1 receptor ( CSF 1R) related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia ( ALSP ) have been only partially elucidated. Methods: Clinical data from CSF 1R mutation carriers who had been seen at our institutions or reported elsewhere were collected and analysed using a specific investigation sheet to standardize the data. Results: In all, 122 cases from 90 families with CSF 1R mutations were identified. The mean age of onset was 43 years (range 18–78 years), the mean age at death was 53 years (range 23–84 years) and the mean disease duration was 6.8 years (range 1–29 years). Women had a significantly younger age of onset than men (40 vs. 47 years, P = 0.0006, 95% confidence interval 3.158–11.177). There was an age‐dependent penetrance that was significantly different between the sexes ( P = 0.0013). Motor dysfunctions were the most frequent initial symptom in women whose diseases began in their 20s. Thinning of the corpus callosum, abnormal signalling in pyramidal tracts, diffusion‐restricted lesions and calcifications in the white matter were characteristic imaging findings of ALSP . The calcifications were more frequently reported in our case series than in the literature (54% vs. 3%). Seventy‐nine per cent of the mutations were located in the distal part of the tyrosine kinase domain of CSF 1R (102 cases). There were no apparent phenotype−genotype correlations. Conclusions: The characteristics of ALSP were clarified. The phenotype of ALSP caused by CSF 1R mutations is affected by sex.
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
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?
A sex-difference in susceptibility has been reported in a Japanese cohort of HDLS associated with CSF1R mutations.
“A sex-difference in susceptibility has been reported in a Japanese cohort of HDLS associated with CSF1R mutations [23].”
From Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy (2020) · cites this paper as [23]
The Results (Clinical data; page unavailable) report a significant sex difference in age-dependent disease penetrance among CSF1R mutation carriers, supporting the susceptibility claim. The Methods (Study subjects and extracting data; page unavailable) identify 26 Japanese cases, but the reported sex-difference analysis used a larger set of cases that also included cases from the literature, so describing the finding as arising from a Japanese cohort alone is too narrow. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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 · cited 8× · see citing works
“Since the clinical presentation of ALSP has not been clearly elucidated, many patients have been clinically misdiagnosed as having Alzheimer’s disease [4], frontotemporal dementia [1], corticobasal degeneration [5], multiple sclerosis (MS) [1] or cerebral autosomal dominant arteriopathy with subcortical infarcts and l…”
BackgroundInfluentialSelf-citationCSF1R mutations link POLD and HDLS as a single disease entity
Nicholson, A. M., Baker, M. C., Finch, N. A., Rutherford, N. J., Wider, C. W., Graff‐Radford, N. R., Nelson, P. T., Clark, H. B., Wszołek, Z. K., Dickson, D. W., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31828726a7 · Cited by 162 · see citing works
(1984) · PubMed · Cited by 150 · see citing works
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS
Konno, T., Tada, M., Tada, M., Koyama, A., Nozaki, H., Harigaya, Y., Nishimiya, J., Matsunaga, A., Yoshikura, N., Ishihara, K., et al. (2013) · Neurology · doi:10.1212/wnl.0000000000000046 · Cited by 129 · cited 5× · see citing works
“Additionally, it has been suggested that the frameshift mutations, which were located outside the TKD, caused ALSP by haploinsufficiency [12].”
BackgroundInfluentialSelf-citationChitu, V., Gokhan, S., Gulinello, M., Branch, C. A., Patil, M., Basu, R., Stoddart, C., Mehler, M. F., & Stanley, E. R. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.12.001 · Cited by 119 · cited 1× · see citing works
“In a study of the Csf1r haploinsufficient mouse model of ALSP, depression and anxiety-like behaviour were observed only in male mice [41], but this was not seen in our study.”
ResultMRI characteristics and scoring in HDLS due to CSF1R gene mutations
Sundal, C., van Gerpen, J. A., Nicholson, A. M., Wider, C. W., Shuster, E. A., Aasly, J. O., Spina, S., Ghetti, B. F., Roeber, S., Garbern, J. Y., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318263575a · Cited by 113 · see citing works
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., et al. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0046-z · Cited by 106 · cited 1× · see citing works
“Since the clinical presentation of ALSP has not been clearly elucidated, many patients have been clinically misdiagnosed as having Alzheimer’s disease [4], frontotemporal dementia [1], corticobasal degeneration [5], multiple sclerosis (MS) [1] or cerebral autosomal dominant arteriopathy with subcortical infarcts and l…”
BackgroundA practical approach to diagnosing adult onset leukodystrophies
Ahmed, R. M., Murphy, E., Davagnanam, I., Parton, M. J., Schott, J. M., Mummery, C. J., Rohrer, J. D., Lachmann, R., Houlden, H., Fox, N. C., et al. (2013) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2013-305888 · Cited by 95 · cited 1× · see citing works
“Whilst the thinning of the corpus callosum could be seen in other leukoencephalopathies [42], the calcifications seem to be specific to ALSP [12,22].”
BackgroundGenetic Analysis of Inherited Leukodystrophies
Guerreiro, R. J., Kara, E., Ber, I. L., Brás, J., Rohrer, J. D., Taipa, R. J. F., Lashley, T., Dupuits, C., Gurunlian, N., Mochel, F., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.698 · Cited by 94 · see citing works
Terada, S., Ishizu, H., Yokota, O., Ishihara, T., Nakashima, H., Kugo, A., Tanaka, Y., Nakashima, T., Nakashima, Y., & Kuroda, S. (2004) · Acta Neuropathologica · doi:10.1007/s00401-004-0920-5 · Cited by 85 · cited 1× · see citing works
“Since the clinical presentation of ALSP has not been clearly elucidated, many patients have been clinically misdiagnosed as having Alzheimer’s disease [4], frontotemporal dementia [1], corticobasal degeneration [5], multiple sclerosis (MS) [1] or cerebral autosomal dominant arteriopathy with subcortical infarcts and l…”
BackgroundLynch, D. S., Jaunmuktane, Z., Sheerin, U., Phadke, R., Brandner, S., Milonas, I., Dean, A. F., Bajaj, N. P. S., McNicholas, N., Costello, D. J., et al. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2015-310788 · Cited by 82 · see citing works
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
Karle, K. N., Biskup, S., Schüle, R., Schweitzer, K. J., Krüger, R., Bauer, P., Bender, B., Nägele, T., & Schöls, L. J. (2013) · Neurology · doi:10.1212/01.wnl.0000436945.01023.ac · Cited by 77 · cited 2× · see citing works
“The reason for the high frequency of sporadic cases is partly explained by the presence of de novo mutations [1,7,8,23].”
BackgroundSundal, C., Fujioka, S., van Gerpen, J. A., Wider, C. W., Nicholson, A. M., Baker, M. C., Shuster, E. A., Aasly, J. O., Spina, S., Ghetti, B. F., et al. (2013) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2013.05.013 · Cited by 70 · see citing works
Kinoshita, M., Yoshida, K., Oyanagi, K., Hashimoto, T., & Ikeda, S. (2012) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2012.03.012 · Cited by 57 · see citing works
Self-citationKleinfeld, K., Mobley, B. C., Hedera, P., Wegner, A. M., Sriram, S., & Pawate, S. (2012) · Journal of Neurology · doi:10.1007/s00415-012-6680-6 · Cited by 50 · see citing works
Bender, B., Klose, U., Lindig, T. M., Biskup, S., Nägele, T., Schöls, L. J., & Karle, K. N. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7509-2 · Cited by 48 · see citing works
Saitoh, B., Yamasaki, R., Hayashi, S., Yoshimura, S., Tateishi, T., Ohyagi, Y., Murai, H., Iwaki, T., Yoshida, K., & Kira, J. (2013) · Multiple Sclerosis Journal · doi:10.1177/1352458513489854 · Cited by 47 · cited 2× · see citing works
“Indeed, the young women reported to have ALSP in the literature were initially diagnosed as having MS, particularly the primary progressive form, and received immunotherapy without benefit [8,10,14,31].”
BackgroundSelf-citationSundal, C., Baker, M., Karrenbauer, V. D., Gustavsen, M. W., Bedri, S. K., Glaser, A., Myhr, K.-M., Haugarvoll, K., Zetterberg, H., Harbo, H. F., et al. (2014) · European Journal of Neurology · doi:10.1111/ene.12572 · Cited by 46 · see citing works
Kim, E., Shin, J., Lee, J. H., Kim, J. H., Na, D. L., Suh, Y., Hwang, S. J., Lee, J., Lee, Y. M., Shin, M., et al. (2014) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.12.021 · Cited by 43 · cited 1× · see citing works
“Indeed, the young women reported to have ALSP in the literature were initially diagnosed as having MS, particularly the primary progressive form, and received immunotherapy without benefit [8,10,14,31].”
BackgroundCSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy
Mitsui, J., Matsukawa, T., Ishiura, H., Higasa, K., Yoshimura, J., Saito, T., Ahsan, B., Takahashi, Y., Goto, J., Iwata, A., et al. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32100 · Cited by 40 · see citing works
Kondo, Y., Kinoshita, M., Fukushima, K., Yoshida, K., & Ikeda, S. (2013) · Internal Medicine · doi:10.2169/internalmedicine.52.8879 · Cited by 36 · cited 1× · see citing works
“The reason for the high frequency of sporadic cases is partly explained by the presence of de novo mutations [1,7,8,23].”
BackgroundSelf-citationTerasawa, Y., Osaki, Y., Kawarai, T., Sugimoto, T., Orlacchio, A., Abe, T., Izumi, Y., & Kaji, R. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.08.027 · Cited by 36 · cited 1× · see citing works
“(iv) CT findings: Calcifications are present in the white matter [11,12,22,38,39].”
BackgroundSelf-citationInui, T., Kawarai, T., Fujita, K., Kawamura, K., Mitsui, T., Orlacchio, A., Kamada, M., Abe, T., Izumi, Y., & Kaji, R. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.08.020 · Cited by 36 · cited 1× · see citing works
“Indeed, the young women reported to have ALSP in the literature were initially diagnosed as having MS, particularly the primary progressive form, and received immunotherapy without benefit [8,10,14,31].”
BackgroundSelf-citationHoffmann, S., Murrell, J. R., Harms, L., Miller, K., Meisel, A., Brosch, T., Scheel, M., Ghetti, B. F., Goebel, H., & Stenzel, W. (2014) · Brain Pathology · doi:10.1111/bpa.12120 · Cited by 32 · see citing works
Battisti, C., Donato, I. D., Bianchi, S., Monti, L., Formichi, P., Rufa, A., Taglia, I., Cerase, A., Dotti, M. T., & Federico, A. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7257-3 · Cited by 32 · see citing works
KIDs rule: regulatory phosphorylation of RTKs
Locascio, L. E., & Donoghue, D. J. (2013) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2012.12.001 · Cited by 31 · cited 10× · see citing works
“All mutations were located within TKD except the T567fsX44 and S688EfsX13 mutations.”
BackgroundInfluentialA novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids
Piana, R. L., Webber, A., Guiot, M., Cortes, M. D. P., & Brais, B. (2014) · Neurogenetics · doi:10.1007/s10048-014-0413-1 · Cited by 28 · cited 1× · see citing works
“Indeed, 69- and 79year-old asymptomatic mutation carriers have been reported [23,27].”
BackgroundFoulds, N. C., Pengelly, R. J., Hammans, S. R., Nicoll, J. A. R., Ellison, D. W., Ditchfield, A., Beck, S., & Ennis, S. (2015) · Scientific Reports · doi:10.1038/srep10042 · Cited by 27 · see citing works
Kinoshita, M., Kondo, Y., Yoshida, K., Fukushima, K., Hoshi, K.-I., Ishizawa, K., Araki, N., Yazawa, I., Washimi, Y., Saitoh, B., et al. (2013) · Internal Medicine · doi:10.2169/internalmedicine.53.0863 · Cited by 25 · cited 1× · see citing works
“Thinning of the corpus callosum accompanied by signalling abnormalities is also highly detectable, even in the early phases of the disease [12,13].”
BackgroundSelf-citationFujioka, S., Broderick, D. F., Sundal, C., Baker, M., Rademakers, R., & Wszołek, Z. K. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7093-x · Cited by 23 · cited 2× · see citing works
“(iv) CT findings: Calcifications are present in the white matter [11,12,22,38,39].”
BackgroundAhmed, R. M., Guerreiro, R. J., Rohrer, J. D., Güven, G., Rossor, M. N., Hardy, J., & Fox, N. C. (2013) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2013.06.007 · Cited by 22 · see citing works
Donato, I. D., Stabile, C., Bianchi, S., Taglia, I., Mignarri, A., Salvatore, S., Giorgio, E., Brusco, A., Simone, I. L., Dotti, M. T., et al. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-150097 · Cited by 17 · see citing works
Robinson, J. L., Suh, E. R., Wood, E. M., Lee, E. B., Coslett, H. B., Raible, K. M., Lee, V. M. ‐., Trojanowski, J. Q., & Deerlin, V. M. V. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0219-x · Cited by 16 · see citing works
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids
Meyer-Ohlendorf, M., Braczynski, A. K., Al-Qaisi, O., Gessler, F. A., Biskup, S., Weise, L. M., Steinbach, J., Wagner, M., Mittelbronn, M. G. A., & Bähr, O. (2015) · BMC Neurology · doi:10.1186/s12883-015-0368-3 · Cited by 14 · cited 1× · see citing works
“(iv) CT findings: Calcifications are present in the white matter [11,12,22,38,39].”
BackgroundKörtvélyessy, P., Krägeloh‐Mann, I., Mawrin, C., Heinze, H., Bittner, D., Wieland, I., Zenker, M., & Nestor, P. J. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.09.370 · Cited by 13 · see citing works
Ueda, S., Yamashita, H., Hikiami, R., Sawamoto, N., Yoshida, K., & Takahashi, R. (2015) · eNeurologicalSci · doi:10.1016/j.ensci.2015.07.001 · Cited by 12 · see citing works
Self-citationKitani‐Morii, F., Kasai, T., Tomonaga, K., Saito, K., Mizuta, I., Yoshioka, A., Nakagawa, M., & Mizuno, T. (2014) · Internal Medicine · doi:10.2169/internalmedicine.53.1932 · Cited by 12 · cited 1× · see citing works
“Indeed, the young women reported to have ALSP in the literature were initially diagnosed as having MS, particularly the primary progressive form, and received immunotherapy without benefit [8,10,14,31].”
BackgroundSelf-citationHereditäre diffuse Leukenzephalopathie mit Sphäroiden
Schuberth, M., Levin, J., Sawalhe, D., Schwarzkopf, R. M., von Baumgarten, L., Ertl-Wagner, B. B., Rominger, A., Arzberger, T., Kretzschmar, H. A., Froböse, T., et al. (2014) · Der Nervenarzt · doi:10.1007/s00115-014-4052-4 · Cited by 10 · see citing works
Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation
Levin, J., Tiedt, S., Arzberger, T., Biskup, S., Schuberth, M., Stenglein‐Krapf, G., Kreth, F.-W., Högen, T., la Fougère, C. J., Linn, J., et al. (2014) · Clinical Neurology and Neurosurgery · doi:10.1016/j.clineuro.2014.04.022 · Cited by 10 · see citing works
Lee, D., Yun, J. Y., Jeong, J. H., Yoshida, K., Nagasaki, S., & Ahn, T. (2015) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2015.04.010 · Cited by 8 · see citing works
Self-citationSaitoh, B., Yoshida, K., Hayashi, S., Yamasaki, R., Sato, S., Kamada, T., Suzuki, S. O., Murai, H., Iwaki, T., Ikeda, S., et al. (2013) · Clinical and Experimental Neuroimmunology · doi:10.1111/cen3.12076 · Cited by 8 · see citing works
Self-citationLan, M., Liu, J., Chang, C., Chen, Y., Su, C.-S., Peng, C., & Chang, Y. (2014) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000067 · Cited by 7 · cited 1× · see citing works
“(iv) CT findings: Calcifications are present in the white matter [11,12,22,38,39].”
Background
Flagged first, then by citations
Cited by
Sorted by citations
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 · see citing works
“Although there are no sex differences of CSF1R-related leukoencephalopathy in prevalence and disease duration, male patients develop disease significantly later than do females [50].”
Background<i>CSF1R</i> -related leukoencephalopathy: A major player in primary microgliopathies
Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K. (2018) · Neurology · doi:10.1212/wnl.0000000000006642 · Cited by 208 · see citing works
“Dr. Konno is currently with the Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.”
BackgroundMethodInfluentialSelf-citationOosterhof, N., Kuil, L. E., van der Linde, H. C., Burm, S. M., Berdowski, W., van Ijcken, W. F. J., van Swieten, J. C., Hol, E. M., Verheijen, M. H. G., & van Ham, T. J. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.06.113 · Cited by 178 · see citing works
Lynch, D. S., Wade, C., de Paiva, A. R. B., John, N. A., Kinsella, J. A., Merwick, Á., Ahmed, R. M., Warren, J. D., Mummery, C. J., Schott, J. M., et al. (2018) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2018-319481 · Cited by 143 · see citing works
“25 Pathologically the disease is characterised by the presence of astrogliosis with myelin and axonal loss and frequent axonal spheroids in the cerebral white matter.”
Pridans, C., Raper, A., Davis, G. M., Alves, J., Sauter, K. A. D., Lefèvre, L., Regan, T. W., Meek, S. E., Sutherland, L., Thomson, A. J., et al. (2018) · The Journal of Immunology · doi:10.4049/jimmunol.1701783 · Cited by 133 · see citing works
“described in ALSP patients (7), and within the human exome database (exac.”
BackgroundInfluentialPhenotypic 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 121 · see citing works
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach
Resende, L. L., de Paiva, A. R. B., Kok, F., Leite, C. D. C., & Lucato, L. T. (2019) · Radiographics · doi:10.1148/rg.2019180081 · Cited by 94 · see citing works
Konno, T., Yoshida, K., Mizuta, I., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S., Onodera, O., Wszołek, Z. K., et al. (2017) · European Journal of Neurology · doi:10.1111/ene.13464 · Cited by 90 · see citing works
“of cases [5], but it may characterize ALSP from other leukoencephalopathies”
BackgroundMethodInfluentialSelf-citationMicroglia replacement halts the progression of microgliopathy in mice and humans
Wu, J., Wang, Y., Li, X., Ouyang, P., Cai, Y., He, Y., Zhang, M., Luan, X., Jin, Y., Wang, J., et al. (2025) · Science · doi:10.1126/science.adr1015 · Cited by 98 · see citing works
Chadarevian, J. P., Hasselmann, J., Lahian, A., Capocchi, J. K., Escobar, A., Lim, T. E., Le, L., Tu, C., Nguyen, J., Kiani Shabestari, S., et al. (2024) · Neuron · doi:10.1016/j.neuron.2024.05.023 · Cited by 83 · see citing works
Self-citationPapapetropoulos, S., Pontius, A., Finger, E. C., Karrenbauer, V. D., Lynch, D. S., Brennan, M. J., Zappia, S., Koehler, W., Schöls, L. J., Hayer, S. N., et al. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2021.788168 · Cited by 80 · see citing works
Self-citationAtypical parkinsonian syndromes: a general neurologist's perspective
Deutschländer, A., Ross, O. A., Dickson, D. W., & Wszołek, Z. K. (2017) · European Journal of Neurology · doi:10.1111/ene.13412 · Cited by 81 · see citing works
Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy
Kempthorne, L., Yoon, H., Madore, C., Smith, S., Wszolek, Z. K., Rademakers, R., Kim, J., Butovsky, O., & Dickson, D. W. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-00947-0 · Cited by 77 · see citing works
“That recessive mutations in AARS2 [29] could produce a similar, but not identical phenotype (ALSP), suggests that more than one pathogenic process can produce cerebral white matter pathology with axonal spheroids and pigment-laden macrophages.”
BackgroundInfluentialSelf-citationAdams, S., Kirk, A., & Auer, R. N. (2017) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2017.10.060 · Cited by 75 · see citing works
Kuwano, N., Kato, T. A., Mitsuhashi, M., Sato‐Kasai, M., Shimokawa, N., Hayakawa, K., Ohgidani, M., Sagata, N., Kubo, H., Sakurai, T., et al. (2018) · Journal of Affective Disorders · doi:10.1016/j.jad.2018.07.040 · Cited by 69 · see citing works
Han, J., Sarlus, H., Wszolek, Z. K., Karrenbauer, V. D., & Harris, R. A. (2020) · Acta Neuropathologica Communications · doi:10.1186/s40478-020-01093-3 · Cited by 65 · see citing works
Patkar, O. L., Caruso, M., Teakle, N., Keshvari, S., Bush, S. J., Pridans, C., Belmer, A., SUMMERS, K. M., Irvine, K. M., & Hume, D. A. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105268 · Cited by 62 · see citing works
Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia
Gelfand, J. M., Greenfield, A. L., Barkovich, M. J., Mendelsohn, B. A., van Haren, K. P., Hess, C. P., & Mannis, G. N. (2019) · Brain · doi:10.1093/brain/awz390 · Cited by 61 · see citing works
Colony stimulating factors in the nervous system
Chiţu, V., Biundo, F., & Stanley, E. R. (2021) · Seminars in Immunology · doi:10.1016/j.smim.2021.101511 · Cited by 55 · see citing works
Berdowski, W. M., van der Linde, H. C., Breur, M., Oosterhof, N., Beerepoot, S., Sanderson, L. E., Wijnands, L. I., de Jong, P., Tsai-Meu-Chong, E., de Valk, W. G., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02440-5 · Cited by 49 · see citing works
Modeling CSF‐1 receptor deficiency diseases – how close are we?
Chiţu, V., Gökhan, Ş., & Stanley, E. R. (2021) · FEBS Journal · doi:10.1111/febs.16085 · Cited by 50 · see citing works
Treatment of CSF1R ‐Related Leukoencephalopathy: Breaking New Ground
Tipton, P. W., Kenney‐Jung, D. L., Rush, B. K., Middlebrooks, E. H., Nascene, D. R., Singh, B., Holtan, S. G., Ayala, E., Broderick, D. F., Lund, T. C., et al. (2021) · Movement Disorders · doi:10.1002/mds.28734 · Cited by 50 · see citing works
“HSCT is a treatment for certain leukodystrophies, such as adrenoleukodystrophy, metachromatic leukodystrophy, and Krabbe disease.(1,8) CSF1R mutations result in a loss of function within microglia, and it has been proposed that CSF1R-related leukoencephalopathy may also be transplant responsive, with the expectation t…”
BackgroundResultInfluentialDulski, J., Heckman, M. G., White, L. J., Żur‐Wyrozumska, K., Lund, T. C., & Wszołek, Z. K. (2022) · Pharmaceutics · doi:10.3390/pharmaceutics14122778 · Cited by 46 · see citing works
“Contrarily, the first manifestation of cognitive impairment and general incidence of thereof was higher in the previously reported patients (59% and 94%, respectively) than in our cohort (43% and 80%, respectively) [15].”
ResultInfluentialCodjia, P., Ayrignac, X., Mochel, F., Mouzat, K., Dalliere, C. C., Castelnovo, G., Ellie, E., Etcharry‐Bouyx, F., Verny, C., Belliard, S., et al. (2018) · American Journal of Neuroradiology · doi:10.3174/ajnr.a5744 · Cited by 46 · see citing works
“They are characteristic of the disease because they have only been reported in ALSP (two-thirds of the patients) and in AARS2-related leukoencephalopathy (100%).(2,7,14,17) As previously described, our single patient with serial MR imaging and DWI sequences had persistent b 1000 hyperintensities.”
BackgroundResultMicroglia: The Missing Link to Decipher and Therapeutically Control MS Progression?
Geladaris, A., Häusler, D., & Weber, M. S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22073461 · Cited by 43 · see citing works
“Loss-of function of CSF-1R causes hereditary diffuse leukoencephalopathy in humans [98].”
BackgroundKim, E., Kim, Y.-E., Jang, J., Cho, E., Na, D. L., Seo, S. W., Jung, N., Jeong, J. H., Kwon, J. C., Park, K. H., et al. (2018) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2018.06.031 · Cited by 39 · see citing works
Zhuang, L.-P., Liu, C.-Y., Li, Y., Huang, H.-P., & Zou, Z. (2020) · Annals of Translational Medicine · doi:10.21037/atm.2019.12.17 · Cited by 38 · see citing works
“Notably, mutations tend to occur more frequently in the distal part of the TKD than the proximal part (5), and exons 18 – 20 of CSF1R gene are mutation hotspots where 63% of CSF1R mutations exist (Figure 2).”
BackgroundTauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
Ganguly, J., & Jog, M. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.599384 · Cited by 38 · see citing works
Mickeviciute, G., Valiuskyte, M., Plattén, M., Wszołek, Z. K., Andersen, O., Karrenbauer, V. D., Ineichen, B. V., & Granberg, T. (2021) · Journal of Internal Medicine · doi:10.1111/joim.13420 · Cited by 37 · see citing works
Stables, J., Green, E. K., Sehgal, A., Patkar, O. L., Keshvari, S., Taylor, I., Ashcroft, M. E., Grabert, K., Wollscheid-Lengeling, E., Szymkowiak, S., et al. (2022) · Development · doi:10.1242/dev.200237 · Cited by 37 · see citing works
Papapetropoulos, S., Gelfand, J. M., Konno, T., Ikeuchi, T., Pontius, A., Meier, A., Foroutan, F., & Wszołek, Z. K. (2024) · Frontiers in Neurology · doi:10.3389/fneur.2024.1320663 · Cited by 36 · see citing works
Self-citationWu, C., Wang, M., Wang, X., Li, W., Li, S., Chen, B., Niu, S., Tai, H., Pan, H., & Zhang, Z. (2022) · Brain · doi:10.1093/brain/awac426 · Cited by 37 · see citing works
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome
Giau, V. V., Bagyinszky, E., Youn, Y. C., An, S. S. A., & Kim, S. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20174298 · Cited by 37 · see citing works
The Primary Microglial Leukodystrophies: A Review
Ferrer, I. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23116341 · Cited by 34 · see citing works
“No correlation is apparent between phenotype and genotype, considering patients with mutations in proximal kinase domain compared with the distal kinase domain, except for seizures, which are more frequent in patients who had mutations in the proximal kinase domain [36].”
BackgroundInfluentialMiura, T., Mezaki, N., Konno, T., Iwasaki, A., Hara, N., Miura, M., Funayama, M., Unai, Y., Tashiro, Y., Okita, K., et al. (2018) · Journal of Neurology · doi:10.1007/s00415-018-9017-2 · Cited by 33 · see citing works
Self-citationSundal, C., Carmona, S., Yhr, M., Almström, O., Ljungberg, M., Hardy, J., Hedberg‐Oldfors, C., Fred, Å., Brás, J., Oldfors, A., et al. (2019) · Acta Neuropathologica Communications · doi:10.1186/s40478-019-0843-y · Cited by 32 · see citing works
Differential regulation of microglial states by colony stimulating factors
Stanley, E. R., Biundo, F., Gökhan, Ş., & Chiţu, V. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1275935 · Cited by 30 · see citing works
Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
Muthusamy, K., Sivadasan, A., Dixon, L. V. M., Sudhakar, S. V., Thomas, M. M., Danda, S., Wszołek, Z. K., Wierenga, K. J., Dhamija, R., & Gavrilova, R. H. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1219324 · Cited by 28 · see citing works
“Extrapyramidal symptoms are less frequent but, if present, can serve as useful diagnostic clues, such as parkinsonism in CSF1R-related leukoencephalopathy, chorea in Gordon Holmes syndrome, and dystonia in AARS2-related leukoencephalopathy (11, 12).”
BackgroundInfluentialBrain Calcifications in Adult-Onset Genetic Leukoencephalopathies
Ayrignac, X., Nicolas, G., Dalliere, C. C., Hannequin, D., & Labauge, P. M. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.1062 · Cited by 26 · see citing works
“(1) confirm the calcic density of the MRI-detected hypointensities,”
BackgroundNfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Hayer, S. N., Krey, I., Barro, C., Rößler, F., Körtvelyessy, P., Lemke, J. R., Kühle, J., & Schöls, L. J. (2018) · Neurology · doi:10.1212/wnl.0000000000006357 · Cited by 25 · see citing works
Is Pre‐Symptomatic Immunosuppression Protective in CSF1R ‐ Related Leukoencephalopathy?
Tipton, P. W., Stanley, E. R., Chiţu, V., & Wszołek, Z. K. (2021) · Movement Disorders · doi:10.1002/mds.28515 · Cited by 25 · see citing works
“earlier than males with symptom onset in the fourth decade of life and average disease duration of 7 years.(2) In 2011, a mutation in the colonystimulating factor 1 receptor (CSF1R) gene was first identified in the initial collection of HDLS families.”
BackgroundDulski, J., Souza, J., Santos, M. L. S. F., & Wszołek, Z. K. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02772-9 · Cited by 26 · see citing works
The Phenotypic and Genotypic Spectrum of CSF1R ‐Related Disorder in China
Wu, J., Cheng, X., Ji, D., Niu, H., Yao, S., Lv, X., Wang, J., Li, Z., Zheng, H., Cao, Y., et al. (2024) · Movement Disorders · doi:10.1002/mds.29764 · Cited by 24 · see citing works
“However, compared with Japanese patients (53.8%), 13 the proportion of punctate calci fi cations in the brain was signi fi cantly lower in our patients (11.3%).”
BackgroundResultInfluentialIkeuchi, T., Mezaki, N., & Miura, T. (2017) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2017.08.018 · Cited by 24 · see citing works
Self-citationClinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations
Tsai, P., Fuh, J., Yang, C., Chang, A., Lien, L., Wang, P., Lai, K., Tsai, Y., Lee, Y., & Liao, Y. (2021) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51467 · Cited by 23 · see citing works
“However, with the advantage of genetic diagnosis, pathologic examination of brain biopsy tissue is no longer the golden standard to make a definite diagnosis of ALSP.”
BackgroundResultInfluentialWade, C., Runeckles, K., Chataway, J., Houlden, H., & Lynch, D. S. (2024) · Neurology Genetics · doi:10.1212/nxg.0000000000200179 · Cited by 22 · see citing works
Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity
Du, S., Zhou, Y., Li, D., Lier, J., Cella, M., Tada, M., Hamasaki, H., Wu, J., Cai, Z., Orthmann‐Murphy, J. L., et al. (2025) · Nature Immunology · doi:10.1038/s41590-025-02195-7 · Cited by 26 · see citing works
Self-citationLeng, C., Lu, L., Wang, G., Zhang, Y., Xu, Y. C., Lin, X., Shen, N., Xu, X., Qun, S., Sun, M., et al. (2019) · PubMed Central · Cited by 21 · see citing works
Sellami, L., Saracino, D., & Ber, I. L. (2020) · Revue Neurologique · doi:10.1016/j.neurol.2020.02.008 · Cited by 21 · see citing works
“Extensive white matter T2-hyperintensities and thinning of corpus callosum are distinctive MRI findings [64,67].”
BackgroundMakary, M. S., Awan, U., Kisanuki, Y. Y., & Slone, H. W. (2019) · The Neuroradiology Journal · doi:10.1177/1971400918822136 · Cited by 20 · see citing works
“The mean age of onset is 43 years with an earlier presentation in women on average (40 years) compared to men (47 years).(6) The disease course has been reported to be as rapid as two years, which is catastrophic given the typical early adulthood onset.”
BackgroundAllogenic microglia replacement: A novel therapeutic strategy for neurological disorders
Rao, Y., & Peng, B. (2023) · Fundamental Research · doi:10.1016/j.fmre.2023.02.025 · Cited by 18 · see citing works
“The pathological features of this disease include widespread white matter degeneration, abundant neuroax-onal spheroids, and lipid-laden and pigmented microglia/macrophages [107] .”
BackgroundThe evolution of microglia replacement: A new paradigm for CNS disease therapy
Rao, Y., Bai, Y., Li, X., Du, B., & Peng, B. (2025) · Cell stem cell · doi:10.1016/j.stem.2025.10.014 · Cited by 23 · see citing works
Kraya, T., Quandt, D., Pfirrmann, T., Kindermann, A., Lampe, L., Schroeter, M. L., Kohlhase, J., Stoevesandt, D., Hoffmann, K., & Villavicencio‐Lorini, P. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.595 · Cited by 18 · see citing works
Yang, X., Huang, P., Tan, Y., & Xiao, Q. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00491 · Cited by 17 · see citing works
Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy
Kondo, Y., Matsushima, A., Nagasaki, S., Nakamura, K., Sekijima, Y., & Yoshida, K. (2019) · European Journal of Neurology · doi:10.1111/ene.14086 · Cited by 17 · see citing works
Self-citationPan, 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) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01853-5 · Cited by 15 · see citing works
“This is followed in frequency by motor symptoms, including parkinsonian symptoms, pyramidal signs, gait disturbances, and then bulbar signs (dys-arthria, dysphagia) [27, 37, 82].”
InfluentialKinoshita, M., Oyanagi, K., Kondo, Y., Ishizawa, K., Ishihara, K., Yoshida, M., Inoue, T., Mitsuyama, Y., Yoshida, K., Yamada, M., et al. (2021) · eNeurologicalSci · doi:10.1016/j.ensci.2021.100310 · Cited by 15 · see citing works
Self-citationCSF1R mutation presenting as dementia with Lewy bodies
Sharma, R., Graff‐Radford, J., Rademakers, R., Boeve, B. F., Petersen, R. C., & Jones, D. T. (2019) · Neurocase · doi:10.1080/13554794.2019.1601230 · Cited by 14 · see citing works
“Also reported is pyramidal tract signal change (Konno et al., 2017b) and white-matter calcification (Gore, Manley, Dees, Appleby, & Lerner, 2016; Konno, Broderick, & Wszolek, 2017a; Konno et al., 2017b).”
BackgroundThe multicellular interplay of microglia in health and disease: lessons from leukodystrophy
Berdowski, W. M., Sanderson, L. E., & van Ham, T. J. (2021) · Disease Models & Mechanisms · doi:10.1242/dmm.048925 · Cited by 14 · see citing works
CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification
Daida, K., Nishioka, K., Li, Y., Nakajima, S., Tanaka, R., & Hattori, N. (2017) · Internal Medicine · doi:10.2169/internalmedicine.8462-16 · Cited by 14 · see citing works
“Spotty calcification on the brain CT scans has been suggested as a characteristic finding in patients with HDLS (4, 13).”
BackgroundResultInfluentialKim, S., Jeon, B., Bae, J., Won, J., Kim, H., Yim, J., Kim, Y. J., & Park, S. (2019) · Experimental Neurobiology · doi:10.5607/en.2019.28.1.119 · Cited by 14 · see citing works
Larson, K. C., Gergits, F. W., Renoux, A. J., Weisman, E. J., Dejanovic, B., Huang, L., Pandya, B. A., McLaren, D. G., Lynch, B. A., Fisher, R., et al. (2025) · Journal of Neuroinflammation · doi:10.1186/s12974-025-03346-1 · Cited by 14 · see citing works
“A rare neurological disorder, CSF1R-ALSP is neuropathologically characterized by the presence of demyelination, swollen axons, and pigmented glial cells, which lead to adult-onset, rapidly progressing neurological symptoms typically presenting in the 4th decade of life [1, 2].”
Żur‐Wyrozumska, K., Kaczmarska, P., & Mensah‐Glanowska, P. (2021) · Neurologia i Neurochirurgia Polska · doi:10.5603/pjnns.a2021.0012 · Cited by 13 · see citing works
“Almost all are located in the tyrosine kinase domain [1].”
BackgroundInfluentialMao, C., Zhou, L., Zhou, L., Yang, Y., Niu, J., Li, J., Huang, X., Ren, H., Zhao, Y., Peng, B., et al. (2019) · Neurological Sciences · doi:10.1007/s10072-019-04116-7 · Cited by 13 · see citing works
“studied 90 families with ALSP and found 58 mutations located in the tyrosine kinase domain ofCSF1R [22].”
BackgroundPhase 1, First‐In‐Human, Single‐/Multiple‐Ascending Dose Study of Iluzanebart in Healthy Volunteers
Meier, A., Papapetropoulos, S., Marsh, A., Neelon, K., Stiles, D. A., O'Mara, R., Thackaberry, E. A., Colonna, M., & Rajagovindan, R. (2025) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.70033 · Cited by 13 · see citing works
Yska, H. A. F., Golse, M., Beerepoot, S., Hayer, S. N., Bergner, C. G., de Paiva, A. R. B., Marelli, C., Palacios, N. J., Llamas-Osorio, Y., Huiban, C., et al. (2025) · Movement Disorders · doi:10.1002/mds.30282 · Cited by 13 · see citing works
“Unlike the natural history of CSF1R-RD, a rapidly progressive neurodegenerative disease leading to death within a few years, 4,5 this international cohort shows that HSCT can halt disease progression usually after 6 months post-transplantation, as re fl ected by the arrest of brain demyelination,…”
Dulski, J., Stanley, E. R., Chiţu, V., & Wszołek, Z. K. (2023) · Neurologia i Neurochirurgia Polska · doi:10.5603/pjnns.97373 · Cited by 12 · see citing works
Wang, M., & Zhang, X. (2019) · Neurogenetics · doi:10.1007/s10048-019-00579-0 · Cited by 12 · see citing works
Ishiguro, T., Konno, T., Hara, N., Zhu, B., Okada, S., Shibata, M., Saika, R., Kitano, T., Toko, M., Nezu, T., et al. (2023) · European Journal of Neurology · doi:10.1111/ene.15796 · Cited by 11 · see citing works
“From the viewpoint of CSF1R haploinsufficiency as underlying mechanism [13], the possibility that deletion in CSF1R may cause CSF1R- related leukoencephalopathy had been pointed out previously [4].”
BackgroundSelf-citationHematopoietic stem cell transplantation in leukodystrophies
Sevin, C., & Mochel, F. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00017-x · Cited by 11 · see citing works
Wu, L., Liu, J., Sha, L., Wang, X., Li, J., Dong, J., & Jia, J. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-161193 · Cited by 11 · see citing works
Saitoh, B., Yamasaki, R., Hiwatashi, A., Matsushita, T., Hayashi, S., Mitsunaga, Y., Maeda, Y., Isobe, N., Yoshida, K., Ikeda, S.-I., et al. (2019) · Multiple Sclerosis and Related Disorders · doi:10.1016/j.msard.2019.03.008 · Cited by 11 · see citing works
Self-citationAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Wade, C., & Lynch, D. S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00005-3 · Cited by 10 · see citing works
Costei, C., Barbarosie, M., Bernard, G., Brais, B., & Piana, R. L. (2021) · Journal of Neuropsychiatry · doi:10.1176/appi.neuropsych.20110294 · Cited by 10 · see citing works
Stables, J., Pal, R., Bradford, B. M., Carter‐Cusack, D., Taylor, I., Pridans, C., Khan, N., Woodruff, T. M., Irvine, K. M., SUMMERS, K. M., et al. (2024) · Neurobiology of Disease · doi:10.1016/j.nbd.2024.106743 · Cited by 9 · see citing works
Konno, T., Miura, T., Harriott, A. M., Mezaki, N., Edwards, E. S., Rademakers, R., Ross, O. A., Meschia, J. F., Ikeuchi, T., & Wszołek, Z. K. (2018) · European Journal of Neurology · doi:10.1111/ene.13611 · Cited by 9 · see citing works
“All ALSP-associated CSF1R mutations have so far been found in exon 12 or later, which are responsible for the tyrosine kinase domain (TKD) of CSF1R [2].”
BackgroundInfluentialSelf-citationKwon, H. J., Na, D. L., Kim, H. J., & Suh, Y. (2023) · Diagnostics · doi:10.3390/diagnostics13061018 · Cited by 9 · see citing works
“8 years, it varies considerably, with a survival period of over 20 years after the onset [5].”
BackgroundInfluentialThree novel mutations in Chinese patients with CSF1R-related leukoencephalopathy
Chu, M. K., Wang, D., Cui, Y., Kong, Y., Liu, L., Xie, K.-X., Xia, T., Zhang, J., Gao, R., Zhou, A., et al. (2021) · Annals of Translational Medicine · doi:10.21037/atm-21-217 · Cited by 9 · see citing works
“Sex-dependent structural and functional differences in microglia have been convincingly demonstrated in some experimental studies, and female patients with CSF1R-related leukoencephalopathy were reported to develop clinical symptoms significantly earlier than males in some studies (24-26); however, no significant diff…”
ResultSchmitz, A. S., Raju, J., Köhler, W., Klebe, S., Cheheb, K., Reschke, F., Biskup, S., Haack, T. B., Röeben, B., Kellner, M., et al. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12557-0 · Cited by 8 · see citing works
Repopulation of microglia and its implications for CNS disorders: Insights from the single-cell era
Chen, C., Qiao, G., Tang, D., Xu, F., Dong, J., Zhang, J., & Jin, B. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107066 · Cited by 8 · see citing works
Four Swedish cases of CSF1R‐related leukoencephalopathy: Visualization of clinical phenotypes
Rosenstein, I., Andersen, O., Victor, D., Englund, E. M., Granberg, T., Hedberg‐Oldfors, C., Jood, K., Fitrah, Y. A., Ikeuchi, T., & Karrenbauer, V. D. (2022) · Acta Neurologica Scandinavica · doi:10.1111/ane.13589 · Cited by 7 · see citing works
Self-citationHamatani, M., Yamashita, H., Ochi, H., Ashida, S., Hashi, Y., Okada, Y., Fujii, C., Kawamura, K., Kitazawa, R., Nakagawa, M., et al. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104867 · Cited by 8 · see citing works
Self-citationHayer, S. N., Santhanakumaran, V., Böhringer, J., & Schöls, L. J. (2022) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51656 · Cited by 7 · see citing works
Bergner, C. G., Schäfer, L., Vučinić, V., Schetschorke, B., Lier, J., Scherlach, C., Rullmann, M., Sabri, O., Claßen, J., Platzbecker, U., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1163107 · Cited by 7 · see citing works
“Given the literature (34) and our patients, we would therefore suggest that the pre-transplant rate of progression of cognitive decline rather than a patient’s momentary levels of clinical disability are relevant outcome predictors that should guide allo-HSCT treatment decisions for CSF1Rrelated leukoencephalopathy.”
BackgroundPurohit, B., Johandi, F., Sitoh, Y. Y., Ng, A. S., & Tham, C. H. (2020) · Radiology Case Reports · doi:10.1016/j.radcr.2020.07.067 · Cited by 7 · see citing works
“ALSP does not show calcifications in the basal ganglia, thalamus or cerebellum which helps to differentiate it from other metabolic and genetic conditions [4 ,9 ,10 ,13 ,14 ,16] .”
BackgroundInfluentialKim, M.-K., Lee, H., Cho, H. J., Chun, S. Y., Shin, J., Kim, E., Ahn, J. W., Huh, G. Y., Baek, S., & Lee, J. (2017) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlx086 · Cited by 7 · see citing works
MRI pattern recognition in white matter disease
Wolf, N. I., Engelen, M., & van der Knaap, M. S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00019-3 · Cited by 6 · see citing works
Two Novel Intronic Mutations in the CSF1R Gene in Two Families With CSF1R-Microglial Encephalopathy
Jiang, J., Li, W., Wang, X., Du, Z., Chen, J., Liu, Y., Li, W., Lu, Z., Wang, Y., & Xu, J. L. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.902067 · Cited by 6 · see citing works
“The majority of these mutations were missense and were found in Japanese, European, and American populations (Konno et al., 2017).”
BackgroundWhite matter disorders with cerebral calcification in adulthood
Chelban, V., & Houlden, H. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00024-7 · Cited by 6 · see citing works
Brain calcification in a CSF1R mutation carrier precedes white matter degeneration
Konno, T., Broderick, D. F., & Wszołek, Z. K. (2017) · Movement Disorders · doi:10.1002/mds.27130 · Cited by 6 · see citing works
“White matter lesions and thinning of the corpus callosum are almost always seen on brain MRI by the time of symptom onset.(6) In our case we cannot conclude with certainty if her psychiatric symptomatology was or was not related to ALSP.”
BackgroundSelf-citationYang, L., Zhu, L., Lin, B., Shi, Y., Lai, W., Li, K., Tian, L., Xi, Z., & Liu, H. (2025) · Toxics · doi:10.3390/toxics13040231 · Cited by 5 · see citing works
Delorme, C., Adanyeguh, I. M., Bendetowicz, D., Ber, I. L., Ponchel, A., Kas, A., Habert, M., & Mochel, F. (2020) · European Journal of Neurology · doi:10.1111/ene.14465 · Cited by 5 · see citing works
“Neuropsychiatric manifestations of ALSP include cognitive decline, apathy and other behavioral changes resembling behavioral-variant frontotemporal dementia [16].”
BackgroundNeuropsychological profile of CSF1R-related leukoencephalopathy
Rush, B. K., Tipton, P. W., Strongosky, A. J., & Wszołek, Z. K. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1155387 · Cited by 5 · see citing works
“Pathological hallmarks include neuroaxonal spheroids, and pigmented macrophages that decrease in abundance as white matter degeneration advances (4).”
BackgroundHu, B., Zhou, Y., Wu, C., Xiao, N., Li, J., Li, X., Li, Y., Zhang, X., Huang, X., Song, Y., et al. (2024) · Annals of Neurology · doi:10.1002/ana.27147 · Cited by 5 · see citing works
Wu, J., Tian, W., Zhan, F., Luan, X., & Cao, L. H. (2021) · Stem Cell Research · doi:10.1016/j.scr.2021.102593 · Cited by 5 · see citing works
Lubomski, M., Buckland, M. E., Sy, J. S., Wei, H., Tan, I. Y. L., Kane, B., & Spring, P. J. (2018) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2018.09.025 · Cited by 5 · see citing works
Teaching NeuroImages: Rare Adult-Onset Genetic Leukoencephalopathy
Rudrabhatla, P. K., Sabarish, S., Ramachandran, H., & Nair, S. S. (2020) · Neurology · doi:10.1212/wnl.0000000000011233 · Cited by 5 · see citing works
Okamoto, M., Takeshita, J., Takahashi, K., Tanaka, A., Yoshida, K., & Kuriyama, M. (2017) · Rinsho Shinkeigaku · doi:10.5692/clinicalneurol.cn-001072 · Cited by 5 · see citing works
Self-citationRetractedChmiela, T., Roemer, S. F., Strongosky, A. J., Baker, M., Dickson, D. W., & Wszolek, Z. K. (2026) · Movement Disorders · doi:10.1002/mds.70192 · Cited by 4 · see citing works
“4,5 The earlier age at onset observed among ApoE4 carriers likely re fl ects their earlier symptom onset.”
Self-citationA novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids
Du, Q., Wang, M., & Zhou, H. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05296-x · Cited by 4 · see citing works
“addition, this pattern of asymptomatic mutation might represent a lack of penetrance or a late-onset phenotype that had not yet manifested, as previously reported in the literature [20].”
Result
- Authors
- Konno, T., Yoshida, K., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S. ‐., Nishizawa, M., Onodera, O., Wszolek, Z. K., & Ikeuchi, T.
- Affiliations
- Mayo Clinic (US)
- Shinshu University (JP)
- Kyoto Prefectural University of Medicine (JP)
- Tokushima University (JP)
- Niigata University (JP)
- Brain Research Institute, Niigata University (JP)
- Corresponding author
- Ikeuchi, T.
- ORCID
- Venue
- European Journal of Neurology
- Publisher
- Wiley
- Published
- 2016-09-29
- Volume
- 24
- Issue
- 1
- Pages
- 37-45
- ISSN
- 1351-5101 (ISSN-L)
- 1468-1331
- PMC
- PMC5215554
- OpenAlex
- W2525382695
- Cited by
- 179
- References
- 42
- Citations by year
- 2026: 19 · 2025: 23 · 2024: 24 · 2023: 12 · 2022: 24 · 2021: 21 · 2020: 14 · 2019: 18 · 2018: 14 · 2017: 10
- FWCI
- 7.64
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- European Journal of Neurology (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (publishedVersion, other-oa)
- Funders
- Ministry of Health, Labour and Welfare
- Uehara Memorial Foundation
- National Institutes of Health (P50 NS072187)
- Japan Agency for Medical Research and Development (P50 NS072187)
- Topics
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Keywords
- adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, CSF1R mutation, colony-stimulating factor 1 receptor, age of onset, tyrosine kinase domain, white matter calcification, corpus callosum thinning, genotype-phenotype correlation, motor impairment
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Axons, Corpus Callosum, Female, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders, Mutation, Neuroglia, Pyramidal Tracts, Sex Characteristics, Receptor, Macrophage Colony-Stimulating Factor, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Age of Onset, Penetrance, Young Adult, Leukoencephalopathies, White Matter
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
