伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的发病机制及治疗研究进展

doi:10.16288/j.yczz.23-023

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Hereditas(Beijing) ›› 2023, Vol. 45 ›› Issue (7): 568-579.doi: 10.16288/j.yczz.23-023

• Review • Previous Articles Next Articles

Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Yi Zhang(), Zhi-Ying Wu()

Department of Medical Genetics and Center for Rare Diseases, and Department of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China

Received:2023-02-01 Revised:2023-04-27 Online:2023-07-20 Published:2023-05-09
Contact: Zhi-Ying Wu E-mail:zhangyi_@zju.edu.cn;zhiyingwu@zju.edu.cn

Abstract

Abstract:

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease in adults. Many CADASIL cases were reported after NOTCH3 was identified as the causative gene of CADASIL. However, there is still no specific and effective therapies for CADASIL. In this review, we summarize recent research progress on disease models, symptomatic treatments and potential therapies for CADASIL, thereby providing a reference for follow-up CADASIL treatment research.

Key words: CADASIL, pathogenesis

Yi Zhang, Zhi-Ying Wu. Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy[J]. Hereditas(Beijing), 2023, 45(7): 568-579.

Figures/Tables 3

References 48

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动物模型	突变基因来源	Notch3胞外结构域沉积、GOM形成	血管平滑肌退化	脑白质病变	NOTCH信号通路异常	参考文献
Notch3st51/Notch3zm斑马鱼	斑马鱼Notch3	-	+	-	+	[28]
NOTCH3KO小鼠	-	-	+	-	-	[29, 30]
TgNotch3R90C小鼠	人NOTCH3	+	+	-	-	[31, 32]
TgNotch3R169C小鼠	大鼠Notch3	+	+	+	-	[33]
TgNotch3R182C小鼠	人NOTCH3	+	-	-	-	[34]
TgNotch3C428S小鼠	人NOTCH3	+	+	-	+	[35]
TgNotch3C455R小鼠	人NOTCH3	+	+	-	+	[36]
TgNotch3R1031C小鼠	人NOTCH3	+	+	-	-	[36]

Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy

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