Mutations in the EGFr region of NOTCH3 gene and CADASIL phenotype
10.3760/cma.j.issn.1673-4165.2022.06.008
- VernacularTitle:NOTCH3基因EGFr区域突变与CADASIL表型
- Author:
Chen ZHANG
1
;
Zaiqiang ZHANG
Author Information
1. 首都医科大学附属北京天坛医院神经病学中心，北京 100070
- Keywords:
CADASIL;
Receptor, Notch3;
Protein domains;
Genotype;
Phenotype
- From:
International Journal of Cerebrovascular Diseases
2022;30(6):443-447
- CountryChina
- Language:Chinese
-
Abstract:
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a hereditary small vessel disease originated from adult onset, which is caused by the mutation of NOTCH3 gene located in the region of chromosome 19p13. Its clinical features include recurrent ischemic stroke, progressive cognitive impairment, migraine and mental disorders. Recent studies have shown that the mutations in the EGFr region of NOTCH3 gene are associated with the course, clinical manifestations and imaging features of CADASIL. This article reviews the research progress of the NOTCH3 gene EGFr region mutation genotype, clinical phenotype of CADASIL and their correlation, hoping to provide ideas for the early diagnosis and pathogenesis of CADASIL.
