中文摘要：

特发性基底节钙化（Idiopathicbasalgangliacalcification，IBGC）俗称Fahr病，是一种以基底节及大脑其他部位钙化为特征的神经系统遗传疾病，患者可出现运动障碍及认知、精神异常，目前尚无有效治疗药物。该病具有遗传异质性，自2012年本课题组发现第一个致病基因SLC20A2以来，现今又发现4个该病的致病基因：PDGFRB，PDGFB，1SG15和XPR1，初步将IBGC的发生机制分别与大脑局部无机磷稳态失衡、血脑屏障功能障碍及IFN-α／β免疫信号过度放大联系起来。文章综述了IBGC的遗传学研究进展，初步探讨了不同基因导致IBGC的分子机理。

英文摘要：

Idiopathic basal ganglia calcification （IBGC）, also known as Fahr＇s disease, is an inheritable neurode- generative syndrome characterized by mineral deposits in the basal ganglia and other brain regions. Patients with IBGC are often accompanied with movement disorders, cognitive impairment as well as psychiatric abnormalities. So far, no therapeutic drug has been developed for the treatment of IBGC. Recently, genetic studies have identified sev- eral genes associated with IBGC, including SLC2OA2, PDGFRB, PDGFB, 1SG15 and XPR1. Loss-of-function muta- tions in these genes have been associated with disturbance in phosphate homeostasis in brain regions, the dysfunction of blood-brain barrier as well as enhanced IFN-ct/13 immunity. In this review, we summarize the latest research progress in the studies on molecular genetics of IBGC, and discuss the molecular mechanisms underlying the pathophysiology of mutations of different genes.