Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
10.3760/cma.j.issn.1673-4165.2017.09.011
- VernacularTitle:伴皮质下梗死和白质脑病的常染色体隐性遗传脑动脉病
- Author:
Yan LIU
1
;
Changxin LI
;
Xiaowei WU
;
Zuopeng LI
;
Ling LI
;
Sha HONG
Author Information
1. 山西医科大学第一临床医学院
- Keywords:
Cerebral Small Vessel Diseases;
Cerebral Infarction;
Leukoencephalopathies;
Serine Endopeptidases;
Mutation,Missense
- From:
International Journal of Cerebrovascular Diseases
2017;25(9):834-838
- CountryChina
- Language:Chinese
-
Abstract:
Cerebral small vessel disease is a group of heterogeneous diseases with stroke and cognitive impairment as the main clinical features.It can be divided into sporadic type and hereditary type.Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) belongs to hereditary cerebral small vessel disease.It has been reported in China,Japan,Spain,Greece,and other countries.The diagnosis mainly depends on characteristic clinical symptoms,imaging features,and genetic testing.CARASIL manifests as diffuse white matter abnormal signal and subcortical multiple infarcts on MRI,and it caused by HTRA1 gene mutation.
