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
Chinese Journal of Contemporary Neurology and Neurosurgery(2020)
Abstract
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.
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Key words
leukoencephalopathies,receptor, macrophage colony-stimulating factor,microglia,review
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