卡德西尔
白质脑病
医学
病理
白质营养不良
冲程(发动机)
痴呆
脑动脉粥样硬化
血管性痴呆
白质
疾病
血管疾病
磁共振成像
内科学
放射科
工程类
机械工程
作者
Antonio Federico,Ilaria Di Donato,Silvia Bianchi,Chiara Di Palma,Ilaria Taglia,Maria Teresa Dotti
标识
DOI:10.1016/j.jns.2012.07.041
摘要
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.
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