CADASIL: Imaging Characteristics and Clinical Correlation

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• 作者：Shuhan Zhu ; Stephanie J. Nahas
• 关键词：Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ; CADASIL ; NOTCH3 ; Magnetic resonance imaging ; Migraine ; Stroke ; Encephalopathy ; Genetic
• 刊名：Current Pain and Headache Reports
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：20
• 期：10
• 全文大小：1,995 KB
• 刊物主题：Pain Medicine; Internal Medicine;
• 出版者：Springer US
• ISSN：1534-3081
• 卷排序：20

文摘

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule. Additional abnormalities include cerebral microbleeds and large vessel stenosis, particularly in Asian populations. Familiarity with radiologic findings in CADASIL is essential to the correct diagnosis and subsequent management of this disease.