Tissue plasminogen activator-independent roles of neuroserpin in the central nervous system

A number of studies have confirmed the existence of tissue-type plasminogen activator-independent roles of neuroserpin, a member of the serine protease inhibitor superfamily. In this review article, we aim to clarify this role. These unique roles of neuroserpin are involved in its neuroprotective effect during ischemic brain injury, its regulation of tumorigenesis, and the mediation of emotion and cognition through the inhibition of urokinase-type plasminogen activator and fibrinolysin, modification of Th cells, reducing plaque formation, promoting process growth and intracellular adhesion, and alterina the expression of cadherin and nuclear factor kaooa B.

家族性神经丝氨酸蛋白酶抑制剂包涵体脑病一家系研究

目的报道家族性神经丝氨酸蛋白酶抑制剂包涵体脑病(FENIB)一家系的临床表现和遗传学特征,以增强对该病的认识。方法先证者因认知障碍、癫痫于2020年6月就诊于河南省人民医院神经科。对先证者及其家系亲属进行详细的病史询问、神经系统体检、家系图谱绘制。对先证者完善了头颅磁共振成像(MRI)、脑电图、脑脊液、全外显子测序等检查,对部分家系内成员行Sanger测序进行验证。通过复习相关文献,分析该病的特点。结果本家系先证者为23岁青年女性,以认知障碍、癫痫为主要表现,逐渐进展。先证者母亲及兄长在青年时期出现类似临床症状,均在数年后去世。先证者头颅MRI示双侧大脑皮质广泛萎缩。全外显子测序发现编码神经丝氨酸蛋白酶抑制剂的SERPINI1基因c.1013A>G(p.H338R)杂合错义突变。该突变位点为既往国外已报道的致病突变。家系内临床表型一致,基因突变与临床表型共分离。结论对痴呆合并癫痫、肌阵挛的青年患者,要考虑SERPINI1基因突变所致FENIB的可能。