Progress in animal models of autosomal dominant cerebral arteriopathy with subcortical infarction and white matter encephalopathy
10.3760/cma.j.cn113694-20250509-00268
- VernacularTitle:伴有皮质下梗死和白质脑病的常染色体显性遗传脑动脉病动物模型的研究进展
- Author:
Xiaoyang AI
1
;
Dandan GAO
;
Junkui SHANG
;
Fengyu WANG
;
Yadan WANG
;
Jiewen ZHANG
Author Information
1. 郑州大学人民医院 河南省人民医院神经内科，郑州 450003
- Publication Type:Journal Article
- Keywords:
CADASIL;
Animal model;
NOTCH3;
Granular osmiophilic material
- From:
Chinese Journal of Neurology
2025;58(12):1343-1350
- CountryChina
- Language:Chinese
-
Abstract:
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-atherosclerotic, non-amyloidogenic inherited cerebral small vessel disease caused by mutations in the NOTCH3 gene, typically manifesting in middle age. The diagnosis can be confirmed through the detection of granular osmiophilic material in skin biopsies and NOTCH3 gene mutations identified by genetic testing. However, the pathogenesis of this disease remains unclear, and treatment options are limited. A major contributing factor is that currently available preclinical animal models fail to adequately recapitulate the characteristic pathological features and clinical phenotypes of the disease. Therefore, a comprehensive review of recent advances in CADASIL animal models was conducted, and the advantages and limitations of existing models were systematically analyzed, aiming to offer guidance for selecting appropriate animal models in fundamental research and to propose future directions for developing experimental models.
