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頁籤選單縮合
題 名 | Notch Signaling and CADASIL=Notch信號傳遞與體顯性腦動脈血管病變合併皮質下腦梗塞及腦白質病變 |
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作 者 | 湯頌君; 鄭建興; 李銘仁; 葉炳強; | 書刊名 | Acta Neurologica Taiwanica |
卷 期 | 18:2 2009.06[民98.06] |
頁 次 | 頁81-90 |
分類號 | 415.92 |
關鍵詞 | 腦血管病變; 腦梗塞; 腦白質病變; CADASIL; Dementia; Genetic analysis; Notch; Stroke; |
語 文 | 英文(English) |
英文摘要 | Notch signaling plays an essential role in vascular development and human vascular diseases. In adults, mutations of the Notch3 gene cause a hereditary vascular degenerative disease known as cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL). CADASIL is characterized by recurrent strokes and cognitive impairment. Over the past decade, the number of CADASIL patients increased significantly with improvements in genetic testing and other diagnostic tools, but the true prevalence of CADASIL is still underestimated, especially in Asia. Basic studies suggest that Notch3 is essential for the development and survival of the vascular smooth muscle cells, but the mechanisms by which Notch3 mutations become pathogenic are still unclear. This article reviews the clinical features and possible pathogenesis of CADASIL. Efforts to improve the diagnostic accuracy and define the role of Notch3 mutation in brain damage and clinical presentations of CADASIL should be continued. |
本系統中英文摘要資訊取自各篇刊載內容。