缺乏单基因脑小血管疾病(cSVD)诊断和治疗指南。欧洲神经病学会中风和神经遗传学小组认可,一组专家就选定的单基因cSVDs提供了建议,即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),常染色体隐性遗传性脑动脉病伴皮质下梗死和白质脑病(CARASIL),常染色体显性遗传高温需求丝氨酸肽酶1(HTRA1),组织蛋白酶-A相关动脉病伴中风和白质脑病(CARASAL),桥脑常染色体显性遗传性微血管病和白质脑病(PADMAL),法布里病,线粒体脑病,乳酸性酸中毒和中风样发作(MELAS)和IV型胶原(COL4)A1/2。
我们遵循Delphi方法,就与单基因cSVD相关的几个未回答的问题提供建议,包括基因检测,临床和神经放射学诊断,和管理。
我们提出了暗示单基因疾病的“红旗”特征。以协商一致方式商定了适用于所有cSVD管理的一般原则以及针对单基因cSVD的各种形式的具体建议。
结果为参与单基因cSVD诊断和管理的临床医生提供了一个框架。仍需要进一步的多中心观察和治疗研究,以增加支持我们建议的证据水平。
Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), autosomal dominant High Temperature Requirement A Serine Peptidase 1 (HTRA1), cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), Fabry disease, mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and type IV collagen (COL4)A1/2.
We followed the Delphi methodology to provide recommendations on several unanswered questions related to monogenic cSVD, including genetic testing, clinical and neuroradiological diagnosis, and management.
We have proposed \'red-flag\' features suggestive of a monogenic disease. General principles applying to the management of all cSVDs and specific recommendations for the individual forms of monogenic cSVD were agreed by
consensus.
The results provide a framework for clinicians involved in the diagnosis and management of monogenic cSVD. Further multicentre observational and treatment studies are still needed to increase the level of evidence supporting our recommendations.