Louvi Angeliki, Arboleda-Velasquez Joseph F, Artavanis-Tsakonas Spyros
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Dev Neurosci. 2006;28(1-2):5-12. doi: 10.1159/000090748.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a catastrophic late-onset syndrome which manifests itself mainly as a central nervous system degenerative disorder. CADASIL has been associated with mutations in the Notch 3 receptor which appear to cause, mainly, vascular abnormalities. Although more than a decade has passed since Notch 3 mutations were linked with this disease, we still do not have a good grasp on the molecular mechanisms underlying the CADASIL-associated Notch 3 receptor malfunction, nor do we understand many aspects of the CADASIL pathobiology. In this review, we discuss the CADASIL-related literature and attempt to evaluate the various experimental systems and approaches used to address what seems to be a paradigm for studying the pathobiology and genetics of vascular cognitive impairment.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种灾难性的迟发性综合征，主要表现为中枢神经系统退行性疾病。CADASIL与Notch 3受体突变有关，这些突变似乎主要导致血管异常。尽管自Notch 3突变与这种疾病相关联以来已经过去了十多年，但我们仍然没有很好地理解CADASIL相关的Notch 3受体功能障碍的分子机制，也不了解CADASIL病理生物学的许多方面。在这篇综述中，我们讨论了与CADASIL相关的文献，并试图评估用于研究血管性认知障碍的病理生物学和遗传学范例的各种实验系统和方法。
