[1] Axelsson R, Röytt ä M, Sourander P, Akesson HO, Andersen O. Hereditary diffuse leucoencephalopathy with spheroids[J]. Acta Psychiatr Scand Suppl, 1984, 314:1-65. [2] Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia:report of a family, historical perspective, and review of the literature[J]. Acta Neuropathol, 2004, 107:481-488. [3] Van Bogaert L, Nyssen R. Le type tardif de la leukodystrophie progressive familiale[J]. Rev Neurol, 1936, 65:21-45. [4] Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity[J]. Neurology, 2013, 80:1033-1040. [5] Fernández-Vega I, Pérez de Heredia-Go ñi K, Santos-Juanes J, GoñiImizcoz M, Zaldumbide L, Zarranz JJ, Ferrer I. Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes[J]. Histopathology, 2016, 68:308-312. [6] Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H. Analysis of mutations in AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia[J]. JAMA Neurol, 2016, 73:1433-1439. [7] Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids[J]. Nat Genet, 2011, 44:200-205. [8] Chitu V, Gokhan S, Nandi S, Mehler MF, Stanley ER. Emerging roles for CSF-1 receptor and its ligands in the nervous system[J]. Trends Neurosci, 2016, 39:378-393. [9] Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation[J]. Eur J Neurol, 2017, 24:37-45. [10] Ikeuchi T, Mezaki N, Miura T. Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia[J]. Parkinsonism Relat Disord, 2018, 46 Suppl 1:39-41. [11] Kim SI, Jeon B, Bae J, Won JK, Kim HJ, Yim J, Kim YJ, Park SH. An autopsy proven case of CSF1R-mutant adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) with premature ovarian failure[J]. ExpNeurobiol, 2019, 28:119-129. [12] Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation[J]. Eur J Neurol, 2018, 25:142-147. [13] Bender B, Klose U, Lindig T, Biskup S, Nägele T, Schöls L, Karle KN. Imaging features in conventional MRI, spectroscopyand diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)[J]. J Neurol, 2014, 261:2351-2359. [14] Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R. Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids[J]. J Neurol Sci, 2013, 335:213-215. [15] Konno T, Broderick DF, Mezaki N, Isami A, Kaneda D, Tashiro Y, Tokutake T, Keegan BM, Woodruff BK, Miura T, Nozaki H, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Diagnostic value of brain calcifications inadult-onset leukoencephalopathy with axonal spheroids and pigmented glia[J]. AJNR Am J Neuroradiol, 2017, 38:77-83. [16] Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Itoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS[J]. Neurology, 2014, 82:139-148. [17] Bock V, Botturi A, Gaviani P, Lamperti E, Maccagnano C, Piccio L, Silvani A, Salmaggi A. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL):a new report of an Italian woman and review of the literature[J]. J Neurol Sci, 2013, 326:115-119. [18] Konno T, Broderick DF, Wszolek ZK. Brain calcification in a CSF1R mutation carrier precedes white matter degeneration[J]. Mov Disord, 2017, 32:1493-1495. [19] Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK. CSF1R-related leukoencephalopathy:a major player in primary microgliopathies[J]. Neurology, 2018, 91:1092-1104. [20] Monier A, Adle-Biassette H, Delezoide AL, Evrard P, Gressens P, Verney C. Entry and distribution of microglial cells in human embryonic and fetal cerebral cortex[J]. J Neuropathol Exp Neurol, 2007, 66:372-382. [21] Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD. Adult onset leukodystrophy with neuroaxonal spheroids:clinical, neuroimaging and neuropathologic observations[J]. Brain Pathol, 2009, 19:39-47. [22] Lee D, Yun JY, Jeong JH, Yoshida K, Nagasaki S, Ahn TB. Clinical evolution, neuroimaging, and volumetric analysis of a patient with a CSF1R mutation who presented with progressive nonfluent aphasia[J]. Parkinsonism Relat Disord, 2015, 21:817-820. [23] Daida K, Nishioka K, Li Y, Nakajima S, Tanaka R, Hattori N. CSF1R mutation p.G589R and the distribution pattern of brain calcification[J]. Intern Med, 2017, 56:2507-2512. [24] Abe T, Kawarai T, Fujita K, Sako W, Terasawa Y, Matsuda T, Sakai W, Tsukamoto-Miyashiro A, Matsui N, Izumi Y, Kaji R, Harada M. MR Spectroscopy in patients with hereditary diffuse leukoencephalopathy with spheroids and asymptomatic carriers of colony-stimulating factor 1 receptor mutation[J]. Magn Reson Med Sci, 2017, 16:297-303. [25] Alturkustani M, Keith J, Hazrati LN, Rademakers R, Ang LC. Pathologic staging of white matter lesions in adult-onset leukoencephalopathy/leukodystrophy with axonal spheroids[J]. J Neuropathol Exp Neurol, 2015, 74:233-240. [26] Van der Knaap MS, Bugiani M. Leukodystrophies:a proposed classification system based on pathological changes and pathogenetic mechanisms[J]. Acta Neuropathol, 2017, 134:351-382. [27] Tada M, Konno T, Tada M, Tezuka T, Miura T, Mezaki N, Okazaki K, Arakawa M, Itoh K, Yamamoto T, Yokoo H, Yoshikura N, Ishihara K, Horie M, Takebayashi H, Toyoshima Y, Naito M, Onodera O, Nishizawa M, Takahashi H, Ikeuchi T, Kakita A. Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids[J]. Ann Neurol, 2016, 80:554-565. [28] Elmore MR, Najafi AR, Koike MA, Dagher NN, Spangenberg EE, Rice RA, Kitazawa M, Matusow B, Nguyen H, West BL, Green KN. Colony-stimulating factor 1 receptor signaling is necessary for microglia viability, unmasking a microglia progenitor cell in the adult brain[J]. Neuron, 2014, 82:380-397. [29] Streit WJ, Braak H, Xue QS, Bechmann I. Dystrophic (senescent) rather than activated microglial cells are associated with tau pathology and likely precede neurodegeneration in Alzheimer's disease[J]. Acta Neuropathol, 2009, 118:475-485. [30] Graeber MB, Streit WJ. Microglia:biology and pathology[J]. Acta Neuropathol, 2010, 119:89-105. [31] Saitoh BY, Yamasaki R, Hayashi S, Yoshimura S, Tateishi T, Ohyagi Y, Murai H, Iwaki T, Yoshida K, Kira J. A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masqueradingas primary progressive multiple sclerosis[J]. Mult Scler, 2013, 19:1367-1370. [32] Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, N ä gele T, Schöls L. De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)[J]. Neurology, 2013, 81:2039-2044. [33] Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids[J]. Brain, 2016, 139:1666-1672. [34] Yang X, Huang P, Tan Y, Xiao Q. A novel splicing mutation in the CSF1R gene in a family with hereditary diffuse leukoencephalopathy with axonal spheroids[J]. Front Genet, 2019, 10:491. [35] Pridans C, Sauter KA, Baer K, Kissel H, Hume DA. CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function[J]. Sci Rep, 2013, 3:3013. [36] Hiyoshi M, Hashimoto M, Yukihara M, Bhuyan F, Suzu S. M-CSF receptor mutations in hereditary diffuse leukoencephalopathy with spheroids impair not only kinase activity but also surface expression[J]. Biochem Biophys Res Commun, 2013, 440:589-593. [37] Cheng XX, Shen W, Zou HQ, Shen L, Gu XL, Huang DQ, Sun Y, Wang BR, Tian Q, Xu J. Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids[J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2015, 32:208-212.[程欣欣, 申玮, 邹海强, 沈璐,顾小花, 黄丹青, 孙奕, 王变荣, 田琦, 徐俊. 一个遗传性弥漫性脑白质病变合并球状轴索家系的CSF1R基因突变分析[J].中华医学遗传学杂志, 2015, 32:208-212.] [38] Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia[J]. J Neurol, 2018, 265:2415-2424. [39] Kraya T, Quandt D, Pfirrmann T, Kindermann A, Lampe L, Schroeter ML, Kohlhase J, Stoevesandt D, Hoffmann K, Villavicencio-Lorini P. Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids[J]. Mol Genet Genomic Med, 2019, 7:E00595. [40] Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Autozygosity reveals recessive mutations and novel mechanisms in dominant genes:implications in variant interpretation[J]. Genet Med, 2017, 19:1144-1150. [41] Dai XM, Ryan GR, Hapel AJ, Dominguez MG, Russell RG, Kapp S, Sylvestre V, Stanley ER. Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects[J]. Blood, 2002, 99:111-120. [42] Oosterhof N, Chang IJ, Karimiani EG, Kuil LE, Jensen DM, Daza R, Young E, Astle L, van der Linde HC, Shivaram GM, Demmers J, Latimer CS, Keene CD, Loter E, Maroofian R, van Ham TJ, Hevner RF, Bennett JT. Homozygous mutations in CSF1R cause a pediatric-onset leukoencephalopathy and can result in congenital absence of microglia[J]. Am J Hum Genet, 2019, 104:936-947. [43] Mass E, Jacome-Galarza CE, Blank T, Lazarov T, Durham BH, Ozkaya N, Pastore A, Schwabenland M, Chung YR, Rosenblum MK, Prinz M, Abdel-Wahab O, Geissmann F. A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease[J]. Nature, 2017, 549:389-393. [44] Erblich B, Zhu L, Etgen AM, Dobrenis K, Pollard JW. Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits[J]. PLoS One, 2011, 6:E26317. [45] Prinz M, Priller J. Microglia and brain macrophages in the molecular age:from origin to neuropsychiatric disease[J]. Nat Rev Neurosci, 2014, 15:300-312. |