摘要
单基因遗传性脑小血管病是一种临床以脑小血管病表现为共同特征,累及多系统的单基因遗传性疾病。其中单基因遗传性脑小血管病的致病基因、突变形式、基因表型和临床表现是临床诊断的关键,同时对它的了解是进一步研究此类疾病的前提。
Monogenic cerebral small vessel disease is a kind of single-gene inherited disease which manifests clinical spectrums involving multiple systems, and cerebral small vessel disease is a common characteristic. The pathogenic genes, mutations, gene phenotypes and clinical spectrums of the major single-gene hereditary cerebral small vessel diseases are the key to diagnosis, and the comprehensive understanding of those elements is the basis to further study these diseases.
出处
《中国卒中杂志》
2013年第6期486-490,共5页
Chinese Journal of Stroke
基金
国家重点基础研究发展计划(973计划)资助项目(2009CB521905)
北京市脑血管病临床数据和样本资源库建设(D09050703560904)
脑血管病转化医学北京市重点实验开放课题资助
关键词
遗传性脑小血管病
基因表型
临床表现
Hereditary cerebral small vessel disease
Gene phenotypes
Clinical spectrums