Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Genes (Basel). 2021 Nov 23;12(12):1855. doi: 10.3390/genes12121855.
Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.
中风是全球范围内主要的死亡和长期残疾原因。中风是一种异质性的多因素疾病，由环境和遗传因素共同引起。单基因疾病约占所有中风病例的 1%至 5%。与中风相关的最常见的单基因疾病是伴有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)、法布里病、线粒体肌病、脑病、乳酸酸中毒和中风 (MELAS) 以及许多与脑小血管疾病特别相关的单基因疾病，如 COL4A1 基因突变相关性脑-眼-肾综合征、伴有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)、伴有视网膜病变、肾病和中风的遗传性内皮病 (HERNS)。本文介绍了与中风相关的最重要的单基因疾病的临床表型。单基因病因引起的中风较为罕见，但早期诊断很重要，以便在有治疗方法时提供适当的治疗。
