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。

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

Abstract:

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.

Key words: Leukoencephalopathy, progressive multifocal, Diffuse axonal injury, Genetic diseases, inborn, Macrophage colony-stimulating factor, Review