常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病诊断的研究进展

Research Progress on the Diagnosis of CADASIL

常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病(CADASIL)是一种中年期发病,表现为阿尔茨海默病和偏瘫的常染色体显性遗传的小动脉病,该病的临床表现多样,其典型的临床表现有先兆偏头痛、频发性皮质下短暂性脑缺血发作或缺血性脑卒中、认知能力下降以及精神疾病。近年来,虽然该病在世界各地均有报道,但临床医师对其认识还存在一定不足,误诊率和漏诊率较高。本文总结了该病诊断方法的研究进展,包括临床表现、神经影像学表现、病理检查及基因筛查,同时介绍了新出现的CADASIL量表在该病诊断中的应用,以期为临床早期准确诊治CADASIL提供参考。

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy（ CADASIL） is a dominantly inherited small artery disease that leads to Alzheimer disease and hemiplegia in mid- life. In recent years, the disease has been reported all over the world,while the rates of misdiagnosis and missed diagnosis are high,for clinicians have no sufficient understanding of it. In this article, we summarized the research progress of its diagnosis, such as clinical manifestations,neuroimaging manifestations,histopathologic examination and genetic testing,and introduced the application of CADASIL scale in the diagnosis,in order to provide reference for early accurate diagnosis and treatment of CADASIL.