2024年脑小血管病研究进展  

Research progress on cerebral small vessel disease in 2024

作　　者：易昊童 门雪娇[1] 秦冰[1] 魏磊[1] 蔡蔚[1] 陆正齐[1] YI Haotong;MEN Xuejiao;QIN Bing;WEI Lei;CAI Wei;LU Zhengqi(Department of Neurology,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China)

机构地区：[1]中山大学附属第三医院神经内科,广东广州510630

出　　处：《新医学》2025年第3期236-242,共7页Journal of New Medicine

基　　金：国家自然科学基金(82471335);广东省科技计划项目(2023A1515012530)。

摘　　要：2024年全球脑小血管病(cSVD)研究取得了重大进展,尤其是在遗传机制、临床分型、生物标志物及治疗策略上取得显著突破,但仍面临病理复杂性、标志物特异性不足和治疗手段有限的挑战。在遗传性cSVD方面,含有野生型和突变型NOTCH3的蛋白质聚集体是常染色体显性脑动脉病(CADASIL)动脉病理学的主要驱动因素,NOTCH3相关cSVD严重程度分期研究显示,CADASIL在临床上可以分为5期9个阶段。在CADASIL的急性脑梗死溶栓方面,由于脑梗死的体积较小,静脉溶栓出血的风险较低。基于血液的cSVD生物标志物研究也取得一定进展。在cSVD的影像学标志物方面,基底节血管周围间隙、水弥散分数和DTI-ALPS独立促进了cSVD负担和认知能力下降。在脑淀粉样血管病(CAA)方面,研究显示焦虑情绪可以加剧中性粒细胞发生NETosis并促进CAA的病情进展,开拓了负性情绪加剧的神经炎症在cSVD发病机制中的研究思路。在CAA合并阿尔茨海默病方面,289种蛋白质在阿尔茨海默病患者的CAA(+)血管中含量存在差异,其中与含胶原的细胞外基质增加、核糖核蛋白复合物和血脑屏障蛋白减少有关。钠-葡萄糖共转运蛋白2(SGLT2)和SGLT1抑制在cSVD发展中起保护作用。文章对2024年cSVD基础和临床方面的研究进展进行介绍,为相关领域研究提供参考。In 2024,significant progress has been made globally in the research of cerebral small vessel disease(cSVD),particularly in genetic mechanisms,clinical typing,biomarkers and treatment strategies.However,challenges remain in terms of pathological complexity,insufficient specificity of biomarkers,and limited therapeutic means.Protein aggregates containing both wild-type and mutant NOTCH3 are key drivers of arterial pathology in CADASIL.Research on the staging of NOTCH3-related cSVD severity demonstrated that CADASIL can be clinically divided into 5 stages and 9 phases.For acute cerebral infarction thrombolysis in CADASIL,the risk of intravenous thrombolysis-related hemorrhage is relatively low due to the small volume of cerebral infarction.Progress has also been made in blood-based biomarkers for cSVD.Regarding the imaging biomarkers of cSVD,perivascular spaces in the basal ganglia,water diffusion fraction,and DTI-ALPS independently promote the burden of cSVD and cognitive decline.In the field of cerebral amyloid angiopathy(CAA),studies have shown that anxiety can exacerbate neutrophil NETosis and promote the progression of CAA,opening new avenues for research on the role of neuroinflammation exacerbated by negative emotions in the pathogenesis of cSVD.In CAA combined with Alzheimer’s disease(AD),289 proteins showed different levels in CAA(+)vessels of AD patients,with associations to increased collagen-containing extracellular matrix,reduced ribonucleoprotein complexes,and decreased BBB proteins.SGLT2 and SGLT1 inhibition plays a protective role in the development of cSVD.This review introduces the progress in both the basic and clinical research of cSVD in 2024.

关 键 词：遗传性脑小血管病 脑淀粉样血管病 NOTCH3基因 神经影像学 

分 类 号：R743[医药卫生—神经病学与精神病学]