• 作者：Alberto del Rí ; o Espí ; nola^a ; Esther Sol&#233 ; ^b ; Joan Montaner^a ; ^{31862jmv@comb.cat}
• 关键词：Arteriopatí ; a cerebral autosó ; mica dominante con infartos subcorticales y leucoencefalopatí ; a ; NOTCH3 ; Mal plegamiento proteico ; Ictus gené ; tico ; Demencia vascular
• 刊名：Medicina Cl铆nica
• 出版年：2010
• 期刊代码：pca254_00257753
• 类别：med
• 出版时间：10 July 2010
• 卷：135
• 期：5
• 页码：222-230
• 文件大小：319 K

The pathogenic mechanism underlying Cerebral Autosomal Dominant Artheriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) remains elusive although the disease is well characterized at clinical, histological and genetic level. The conservation of the Notch pathway among species allowed the development of several animal and cellular models in order to study it. This review analyzes the reliability of the 7 pathogenic models raised for CADASIL disease: autoimmune origin, mitochondrial dysfunction, loss of Notch3 function, granular osmiophilic material (GOM) toxicity and long term unfolded protein response (UPR) activation. Besides, the relationship between vascular smooth muscle cells (VSMC) degeneration, ischemic lesions and symptoms are discussed. Lastly, some theories are pointed that would explain the exclusiveness of clinical expression to the neural system, being in fact a systemic artheriopathy.