Article
A case of recurrent intracranial hemorrhage in CADASIL caused by NOTCH3 c.1759C>T heterozygous mutation.
Journal of clinical laboratory analysis - 1 Jan 2023
Chu Ying, Wang Qi, Ma Yue, Xu Linying, Ren Kexin, Liu Jiahui, Tao Dingbo, Cao Hua, Ji Xiaofei
Abstract excerpt
BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease that is closely related to the NOTCH3 gene. Recurrent ischemic stroke, progressive cognitive dysfunction, and mental symptoms are the main clinical manifestations, whereas symptomatic intracranial hemorrhage is rare. METHODS: We detected a heterozygous mutation of c.1759C>T...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
