Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy.
J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4.
Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed. Albeit with variable phenotypes and with different defective genes, all these disorders produce arteriopathy and microvascular disintegration with changes in brain functions. Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis.
脑微血管病是导致大量中风的原因之一。近年来，分子遗传学的进步确定了几种涉及脑小血管的单基因疾病，这些疾病易导致缺血性和/或出血性中风以及弥漫性白质疾病，进而导致血管性痴呆。这些疾病（伴有皮质下梗死和白质脑病的常染色体显性脑动脉病[CADASIL]、伴有皮质下梗死和白质脑病的常染色体隐性脑动脉病[CARASIL]、COL4A1 相关脑小血管疾病、伴脑白质营养不良的常染色体显性视网膜血管病[AD-RVLC]和法布里病）的临床特征和诊断线索在这里进行了综述。尽管这些疾病具有不同的表型和不同的缺陷基因，但它们都会导致动脉病变和微血管解体，从而影响脑功能。推荐了特定的诊断工具，基因分析是诊断的金标准。
