Case of one family with autosomal dominant cerebral arteriopathy with subcortical infarction and leukoencephalopa-thy and literatures review
Cui Qi
Peng Hanlin
Ruan Huayao
Yang Sujuan
Abstract：This article reports three cases from one family with Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy(CADASIL).Whole-exome sequencing analysis revealed that two of the patients carried the same heterozygous missense mutation c.665G＞C(p.Cys222Ser)in exon 4 of the NOTCH3 gene.The diagnosis and treatment process are described,and a literature review is provided.
Keywords：Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyLacunar in-farctionCerebral small-vessel diseasePsychological disorder
Publication Date：2025-09-18
Online Publishing Date：2025-10-11(First online date of this platform, not the publication date of the document)
Pages：4( 1128-1131 )