Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
作者信息
Salsano Ettore, Benzoni Chiara
机构信息
Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
出版信息
Ann Clin Transl Neurol. 2022 Jan;9(1):98-100. doi: 10.1002/acn3.51490. Epub 2022 Jan 4.
Abstract
摘要
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Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?由CSF1R突变引起的成人起病性白质脑病：闪光的都是金子吗？
Ann Clin Transl Neurol. 2022 Jan;9(1):98-100. doi: 10.1002/acn3.51490. Epub 2022 Jan 4.
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Reply to: Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?回复：由CSF1R突变引起的成人起病性白质脑病：闪光的都是金子吗？
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引用本文的文献
1
Reply to: Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?回复：由CSF1R突变引起的成人起病性白质脑病：闪光的都是金子吗？
Ann Clin Transl Neurol. 2022 Jan;9(1):101-102. doi: 10.1002/acn3.51489. Epub 2022 Jan 4.
本文引用的文献
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Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.CSF1R 突变导致的成人发病脑白质营养不良的临床和遗传学特征。
Ann Clin Transl Neurol. 2021 Nov;8(11):2121-2131. doi: 10.1002/acn3.51467. Epub 2021 Oct 15.
2
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.从 HDLS 到 BANDDOS：CSF1R 突变引起的疾病表型谱快速扩展。
J Hum Genet. 2021 Dec;66(12):1139-1144. doi: 10.1038/s10038-021-00942-w. Epub 2021 Jun 16.
3
Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy.小胶质细胞替代疗法：一种治疗不可治愈的 CSF1R 相关脑白质营养不良的潜在治疗策略。
Acta Neuropathol Commun. 2020 Dec 7;8(1):217. doi: 10.1186/s40478-020-01093-3.
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A novel dominant-negative mutation of the CSF1R gene causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.CSF1R基因的一种新型显性负性突变导致成人起病的伴有轴突球状体和色素性神经胶质细胞的白质脑病。
Am J Transl Res. 2019 Sep 15;11(9):6093-6101. eCollection 2019.
5
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.双等位基因突变导致骨硬化性骨发育不良-假性骨营养不良疾病谱和伴有脑畸形的退行性脑病。
Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.
6
Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.与CSF1R突变相关的伴轴突 spheroids 和色素性神经胶质细胞的成人起病性白质脑病的临床和遗传学特征
Eur J Neurol. 2017 Jan;24(1):37-45. doi: 10.1111/ene.13125. Epub 2016 Sep 29.
7
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.集落刺激因子1受体（CSF1R）基因的一种新突变导致伴有球状体的可变白质脑病。
Neurogenetics. 2014 Oct;15(4):289-94. doi: 10.1007/s10048-014-0413-1. Epub 2014 Jul 12.
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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.CSF1R 基因突变导致遗传性弥漫性脑白质病变伴硬化症。
Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027.
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Is there an upper age limit for bone marrow transplantation?骨髓移植有年龄上限吗？
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CSF-1 signal transduction.集落刺激因子-1信号转导
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