卡德西尔
疾病
白质脑病
医学
遗传学
生物
病理
作者
Ólafur Sveinsson,Enrico Bernardo Arkink,Brynhildur Thors
出处
期刊:PubMed
日期:2024-07-01
卷期号:110 (7): 360-364
标识
DOI:10.17992/lbl.2024.0708.801
摘要
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease of the brain characterized by progressive white matter lesions, subcortical infarcts, and cognitive decline. This autosomal dominant disorder is caused by mutations in the NOTCH3 gene located on chromosome 19, resulting in the accumulation of granular osmiophilic material within the walls of small arteries and arterioles. Clinically, CADASIL typically manifests in mid-adulthood with recurrent ischemic events, migraine with aura, mood disturbances, and cognitive impairment. Neuroimaging plays a crucial role in the diagnosis of CADASIL, with characteristic findings including white matter hyperintensities particularly in the anterior temporal lobe and external capsule.
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