遗传性弥漫性白质脑病合并轴索球样变研究进展  

Research progress of hereditary diffuse leukoencephalopathy with spheroids

作　　者：詹飞霞 曹立[1] ZHAN Fei-xia;CAO Li(Department of Neurology and Institute of Neurology,Ruljin Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院神经科上海交通大学医学院神经病学研究所,200025

出　　处：《中国现代神经疾病杂志》2019年第2期125-131,共7页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金资助项目(项目编号:81571086);上海交通大学医学院高峰高原计划(项目编号:20161401);上海交通大学"医工交叉研究基金"资助项目(项目编号:YG2016MS64)~~

摘　　要：遗传性弥漫性白质脑病合并轴索球样变是临床罕见的、进展性中枢神经系统遗传性白质变性病,临床以进行性认知功能障碍、性格改变、精神行为异常和运动障碍等为主要表现;影像学表现为非对称性、斑片状或弥漫性脑白质损害;特征性病理改变为弥漫性脑白质病变,伴显著轴索球样变性;集落刺激因子1受体(CSF1R)基因是目前确定的唯一致病基因。本文拟就遗传性弥漫性白质脑病合并轴索球样变的临床研究、分子遗传学和发病机制研究进展进行综述。Hereditary diffuse leukoencephalopathy with spheroids(HDLS) is a rare and progressive disorder of hereditary white matter degeneration in the central nervous system(CNS). Clinically, the prominent manifestations are progressive cognitive impairment, personality change, mental and behavioral symptoms and movement disorders. Imaging is mainly characterized by asymmetric, patchy or diffuse white matter lesions. Distinctive neuropathology revealed diffuse white matter lesions with marked axonal degenerative spheroids. Colony stimulating factor 1 receptor(CSF1R) gene is currently the only pathogenic gene identified. This article reviews the research progress in clinical study, genetics and pathogenesis of the disease.

关 键 词：脑白质病 进行性多灶性 弥漫性轴索损伤 遗传性疾病 先天性 巨噬细胞集落 刺激因子 综述 

分 类 号：R742[医药卫生—神经病学与精神病学]