遗传性脑小血管病的研究进展

遗传性小血管病是脑小血管病(small vessel diseases,SVD)的一部分,已知会引起缺血性、出血性卒中和痴呆1。约25%的缺血性卒中归因于小血管疾病。脑小血管病的识别依赖于正确的神经影像学。随着磁共振成像(MRI)可用性、质量的提高和成本的降低,脑小血管病患者更容易被识别。脑小血管病在MRI上表现为局灶缺血性改变或腔隙性梗死,以及T2加权图像上白质(WM)高信号。散发性小血管病的最常见原因是动脉硬化。脑小血管病的其他原因包括散发性脑淀粉样血管病,淀粉样变性,炎症和免疫介导的脑小血管病,静脉胶原病和单基因遗传性疾病。已知的危险因素包括年龄、高血压、高脂血症、高体重指数、高空腹血糖和吸烟。目前散发性脑小血管病的治疗包括对症治疗以及抗血栓等二级预防治疗。据估计,单基因疾病约占所有卒中的5%。近年来,通过基因连锁研究、全基因组关联研究和候选基因方法,发现了许多导致脑小血管病的遗传原因。本研究目的是提供关于单基因遗传性脑小血管病的临床表现、神经影像学和遗传原因等相关信息。

Progress in research on hereditary cerebral small vessel disease

Hereditary small vascular disease is a part of small vessel diseases(SVD),which is known to cause ischemic,hemorrhagic stroke and dementia.Approximately 25%of ischemic strokes are attributed to small vessel disease.The identification of cerebral small vessel disease depends on correct neuroimaging.With the availability,quality,and cost of magnetic resonance imaging(MRI),patients with cerebral small vessel disease are more likely to be identified.Cerebral small vessel disease manifests as focal ischemic change or lacunar infarction on MRI,and white matter(WM)high signal on T2-weighted images.The most common cause of sporadic small vessel disease is arteriosclerosis.Other causes of cerebral small vessel disease include sporadic cerebral amyloid angiopathy,amyloidosis,inflammation and immune-mediated cerebral small vessel disease,venous collagen disease,and monogenic hereditary diseases.Known risk factors include age,hypertension,hyperlipidemia,high body mass index,high fasting blood glucose and smoking.At present,the treatment of sporadic cerebral small vessel disease includes symptomatic treatment and secondary prevention and treatment such as antithrombotic.It is estimated that single-gene disease accounts for about 5%of all strokes.In recent years,many genetic causes of cerebral small vessel disease have been discovered through gene linkage studies,genome-wide association studies,and candidate gene methods.The purpose of this review is to provide information on the clinical manifestations,neuroimaging,and genetic causes of monogenic hereditary cerebral small vessel disease.