Pathological changes and molecular ⁃ genetic mechanisms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a inherited cerebral small vessel disease caused by Notch3 gene mutation. The molecular⁃genetic mechanisms of CADASIL have been still unclear. This review includes the physiopathology and gene mutation of CADASIL. We will focus on the underlying pathogenesis based on worldwide researches and literatures in recent years, including abnormal signaling of Notch3 protein and downstream targets, endoplasmic reticulum stress and activation of RhoA/Rho kinases, abnormal contraction, proliferation and differentiation of vascular smooth muscle cell, and autophagy defect of vascular smooth muscle cell.

doi：10.3969/j.issn.1672⁃6731.2021.10.002