中文摘要：

脑组织铁沉积性神经变性病是以脑组织铁代谢异常、中枢神经系统过量铁沉积为特征的神经变性病。常见临床症状为不同类型运动障碍,同时合并不同程度锥体束、小脑、周围神经系统、自主神经系统、精神认知和视觉障碍,具有高度临床异质性。目前共明确10种亚型的10种致病基因,分别为PANK2、COASY、PLA2G6、C19orf12、FA2H、WDR45、ATP13A2、FTL、CP、DCAF17。发病机制涉及线粒体功能障碍、氧化应激损伤、脂质代谢障碍、铁沉积和自噬障碍等。脑组织铁沉积性神经变性病可能与多种神经变性病如帕金森病、额颞叶痴呆、肌萎缩侧索硬化症等存在共同的发病机制。

英文摘要：

Neurodegeneration with brain iron accumulation （NBIA） is a neurodegenerative disorder characterized by abnormal accumulation of iron in central nervous system. Common clinical symptoms in NBIA include different types of dyskinesia, pyramidal tract involvement, cerebellar ataxia, peripheral neuropathy, autonomic neuropathy, cognitive impairment and visual dysfunction. So far, 10 genes have been identified as the causative gene for NBIA subtypes, which are PANK2, COASY, PLA2G6, C19orf12, FA2H, WDR45, ATP13A2, FTL, CP and DCAF17. The pathogenesis of NBIA involves mitochondrial involvement, oxidative stress damage, lipid metabolism and autophagy. Furthermore, NBIA may share the same pathogenetie mechanism with some other neurodegenerative disorders, such as Parkinson＇s disease （PD）, frontotemporal dementia （FTD） and amyotrophic lateral sclerosis （ALS）.