CSF1R相关白质脑病：从遗传性弥漫性白质脑病合并轴索球样变到原发性小胶质细胞病

doi:10.3969/j.issn.1672-6731.2020.01.005

中国现代神经疾病杂志 ›› 2020, Vol. 20 ›› Issue (1): 22-28. doi: 10.3969/j.issn.1672-6731.2020.01.005

• 神经系统疾病免疫研究进展 • 上一篇下一篇

2 CSF1R相关白质脑病：从遗传性弥漫性白质脑病合并轴索球样变到原发性小胶质细胞病

韦艳秋¹, 徐俊², 刘若茜³, 李琳³, 董珍⁴

1. 116044 大连医科大学研究生院2017级;
2. 100050 首都医科大学附属北京天坛医院神经病学中心认知障碍科国家神经系统疾病临床医学研究中心;
3. 225001 扬州, 苏北人民医院神经内科;
4. 225001 扬州大学临床医学院研究生院2017级

收稿日期:2019-12-16 出版日期:2020-01-25 发布日期:2020-01-21
通讯作者: 徐俊,Email:neurojun@126.com
基金资助:
国家自然科学基金资助项目（项目编号：81271211）；国家自然科学基金资助项目（项目编号：81471215）；国家自然科学基金资助项目（项目编号：81870821）；江苏省科技项目（项目编号：BE2015665）；江苏省科技项目（项目编号：BE2015715）；江苏省科技项目（项目编号：BK20151592）

CSF1R-related leukoencephalopathy: from hereditary diffuse leukoencephalopathy with spheroids to primary microgliopathy

WEI Yan-qiu¹, XU Jun², LIU Ruo-xi³, LI Lin³, DONG Zhen⁴

1 Grade 2017, Graduate School, Dalian Medical University, Dalian 116044, Liaoning, China;
2 Department of Cognitive Neurology, Neurology Center, Beijing Tiantan Hospital, Capital Medical University;China National Clinical Research Center for Neurological Diseases, Beijing 100050, China;
3 Department of Neurology, North Jiangsu People's Hospital, Yangzhou 225001, Jiangsu, China;
4 Grade 2017, Graduate School, Yangzhou University Clinical Medical College, Yangzhou 225001, Jiangsu, China

Received:2019-12-16 Online:2020-01-25 Published:2020-01-21
Supported by:
This study was supported by the National Natural Science Foundation of China (No. 81271211, 81471215, 81870821) and Science and Technology Project of Jiangsu Province, China (No. BE2015665, BE2015715, BK20151592).

摘要/Abstract

摘要：

遗传性弥漫性白质脑病合并轴索球样变（HDLS）是一种罕见的常染色体显性遗传性白质脑病，以进行性神经精神症状和运动障碍为主要临床表现，女性比男性更早出现症状；影像学呈现弥漫性脑白质损害、胼胝体变薄、脑组织钙化灶等改变；病理学特征为原发性轴索变性及髓鞘缺失。集落刺激因子1受体（CSF1R）是目前唯一确定的HDLS致病基因，主要表达于小胶质细胞，因此CSF1R相关白质脑病被视为原发性小胶质细胞病的代表，小胶质细胞在该病的发病机制中发挥关键作用。了解CSF1R相关白质脑病研究现状与进展，有助于揭示小胶质细胞可能的病理生理学作用和未来研究方向。

关键词: 脑白质病, 受体, 巨噬细胞集落刺激因子, 小神经胶质细胞, 综述

Abstract:

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant hereditary leukoencephalopathy. Progressive neuropsychiatric symptoms and motor disorders are the main clinical manifestations, and women appear earlier than men. In imaging, diffusing white matter damage, thinning of the corpus callosum and brain calcification are characteristic changes. Primary axonal degeneration and absence of myelin sheath are characteristic histopathological changes. Colony stimulating factor 1 receptor (CSF1R) is the only pathogenic gene of HDLS currently. Since CSF1R is mainly expressed in microglia, CSF1R-related leukoencephalopathy can be regarded as a representative of primary microgliopathy, and microglia play a key role in the pathogenesis of this disease. In this review, we discuss the current progress of CSF1R-related leukoencephalopathy, and reveal the possible pathophysiological role of microglia, as well as future research directions.

Key words: Leukoencephalopathies, Receptor, macrophage colony-stimulating factor, Microglia, Review

韦艳秋, 徐俊, 刘若茜, 李琳, 董珍. CSF1R相关白质脑病：从遗传性弥漫性白质脑病合并轴索球样变到原发性小胶质细胞病[J]. 中国现代神经疾病杂志, 2020, 20(1): 22-28.

WEI Yan-qiu, XU Jun, LIU Ruo-xi, LI Lin, DONG Zhen. CSF1R-related leukoencephalopathy: from hereditary diffuse leukoencephalopathy with spheroids to primary microgliopathy[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2020, 20(1): 22-28.

http://journal11.magtechjournal.com/cjcnn/CN/Y2020/V20/I1/22

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