Article
Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.
Neurogenetics - 1 Jul 2021
Zhang Haohan, Qin Xiaoming, Shi Yingying, Gao Xinya, Wang Fengyu, Wang Huayuan, Shang Junkui, Zhao Jingyi, Zhang Jiewen, Shao Fengmin
Abstract excerpt
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by biallelic HTRA1 pathogenic variants. Recent studies have shown that heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease (CSVD). However, large studies evaluating heterozygous HTRA1 carriers are lacking and the genotype-phenotype correlation is unknown....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.