CAJ | 학술논문

特发性基底节钙化(Idiopathic basal ganglia calcification, 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，ISG15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。
특발성기저절개화(Idiopathic basal ganglia calcification, IBGC)속칭Fahr병，시일충이기저절급대뇌기타부위개화위특정적신경계통유전질병，환자가출현운동장애급인지、정신이상，목전상무유효치료약물。해병구유유전이질성，자2012년본과제조발현제일개치병기인 SLC20A2이래，현금우발현4개해병적치병기인：PDGFRB，PDGFB，ISG15화 XPR1，초보장 IBGC 적발생궤제분별여대뇌국부무궤린은태실형、혈뇌병장공능장애급IFN-α/β면역신호과도방대련계기래。문장종술료IBGC적유전학연구진전，초보탐토료불동기인도치IBGC적분자궤리。
Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease, is an inheritable neuro-degenerative 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-genes associated with IBGC, includingSLC20A2, PDGFRB, PDGFB,ISG15 andXPR1. Loss-of-function mutations these genes have been associated with disturbance in phosphate homeostasis in brain regions, the dysfunction of blood-brain barrier as well as enhanced IFN-α/βimmunity. In this review, we summarize the latest research pro-gress in the studies on molecular genetics of IBGC, and discuss the molecular mechanisms underlying the patho-physiology of mutations of different genes.