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少数缺血性脑血管病可由单基因遗传病引起,包括同型胱氨酸尿症、伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)、伴皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病(CARASIL)和法布里病等。单基因遗传相关的脑血管病有各自独特的临床诊治特点。神经科医师应加强对单基因遗传相关脑血管病的认识,在临床诊治过程中注意有无家族史、典型体征及影像学表现,对可疑患者给予基因检测,以期提高临床诊治水平,改善患者预后。
A small number of ischemic cerebrovascular diseases can be caused by monogenic genetic diseases including homocystinuria, autosomal dominant cerebral artery disease (CADASIL) with subcortical infarcts and leukoencephalopathy, subcortical infarcts and leukoencephalopathy Of autosomal recessive cerebral artery disease (CARASIL) and Fabry disease. Single-gene-related cerebrovascular disease has its own unique clinical diagnosis and treatment characteristics. Neurologists should strengthen their understanding of single-gene inherited cerebrovascular disease, pay attention to family history, typical signs and imaging findings during clinical diagnosis and treatment, and give gene tests to suspect patients in order to improve clinical diagnosis and treatment and improve prognosis .