Identification and Functional Assay of Novel CSF1R Mutations in Patients with Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

被引:0
|
作者
Miura, Takeshi [1 ,2 ]
Mezaki, Naomi [1 ,2 ]
Ishiguro, Takanobu [1 ,2 ]
Tokutake, Takayoshi [1 ]
Kasuga, Kensaku [2 ]
Konno, Takuya [1 ]
Nozaki, Hiroaki [3 ]
Onodera, Osamu [1 ]
Ikeuchi, Takeshi [2 ]
机构
[1] Niigata Univ, Brain Res Inst, Neurol, Niigata, Japan
[2] Niigata Univ, Brain Res Inst, Mol Genet, Niigata, Japan
[3] Niigata Univ, Grad Sch Hlth Sci, Niigata, Japan
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P2.190
引用
收藏
页数:2
相关论文
共 50 条
  • [21] NfL is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
    Hayer, Stefanie N.
    Krey, Ilona
    Barro, Christian
    Roessler, Franziska
    Koertvelyessy, Peter
    Lemke, Johannes R.
    Kuhle, Jens
    Schoels, Ludger
    NEUROLOGY, 2018, 91 (16) : 755 - 757
  • [22] Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
    Hayer, Stefanie N.
    Santhanakumaran, Vidiyaah
    Boehringer, Judith
    Schoels, Ludger
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (11): : 1807 - 1812
  • [23] Clinical Characterization of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
    Konno, Takuya
    Yoshida, Kunihiro
    Mizuno, Toshiki
    Kawarai, Toshitaka
    Tada, Masayoshi
    Nozaki, Hiroaki
    Ikeda, Shu-ichi
    Nishizawa, Masatoyo
    Onodera, Osamu
    Wszolek, Zbigniew K.
    Ikeuchi, Takeshi
    ANNALS OF NEUROLOGY, 2016, 80 : S194 - S194
  • [24] Case 317: Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
    Suthar, Pokhraj Prakashchandra
    Jhaveri, Miral
    Mafraji, Mustafa
    RADIOLOGY, 2023, 308 (03)
  • [25] Clinical presentation of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene.
    Zur-Wyrozumska, K.
    Wach, B.
    Klus, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 1167 - 1167
  • [26] Teaching case 1-2020-ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia
    Klotz, Sigrid
    Riederer, Franz
    Hergovich, Nora
    Schlager, Thomas
    Steinkellner, Lara
    Fertl, Elisabeth
    Baumgartner, Christoph
    Wagner, Matias
    Zimprich, Alexander
    Gelpi, Ellen
    CLINICAL NEUROPATHOLOGY, 2022, 41 (03) : 145 - 146
  • [27] A-117 Neuropsychological Profile of CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
    Taylor, Sarah E.
    Naini, Savana M.
    Eskridge, Courtney
    Holker, Erin
    Logemann, Allison M.
    Porter, James
    Whiteside, Douglas M.
    Waldron, Eric J.
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2023,
  • [28] Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)
    Chitu, Violeta
    Gokhan, Solen
    Gulinello, Maria
    Branch, Craig A.
    Patil, Madhuvati
    Basu, Ranu
    Stoddart, Corrina
    Mehler, Mark F.
    Stanley, E. Richard
    NEUROBIOLOGY OF DISEASE, 2015, 74 : 219 - 228
  • [29] Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
    Li, Xin
    Hu, Banglian
    Guan, Xiaoyan
    Wang, Ziwei
    Zhou, Yuhang
    Sun, Hao
    Zhang, Xian
    Li, Yanfang
    Huang, Xiaohua
    Zhao, Yingjun
    Wang, Xin
    Xu, Huaxi
    Zhang, Yun-Wu
    Wang, Zhanxiang
    Zheng, Honghua
    JOURNAL OF NEUROINFLAMMATION, 2023, 20 (01)
  • [30] Minocycline protects against microgliopathy in a Csf1r haplo-insufficient mouse model of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
    Xin Li
    Banglian Hu
    Xiaoyan Guan
    Ziwei Wang
    Yuhang Zhou
    Hao Sun
    Xian Zhang
    Yanfang Li
    Xiaohua Huang
    Yingjun Zhao
    Xin Wang
    Huaxi Xu
    Yun-Wu Zhang
    Zhanxiang Wang
    Honghua Zheng
    Journal of Neuroinflammation, 20