中国脑血管病杂志2024，Vol.21Issue(10)：688-692,5.DOI:10.3969/j.issn.1672-5921.2024.10.007
HTRA丝氨酸肽酶1基因杂合突变致相关脑小血管病一家系报道
A family report of cerebral small vessel disease caused by heterozygous mutation of HTRA serine peptidase 1 gene
胡娟娟 1李轲 1曾晓霞 1李萍 1胡帅 1漆学良1
作者信息
- 1. 330000 南昌大学第二附属医院神经内科
- 折叠
摘要
Abstract
Cases of high-temperature requirement A serine peptidase 1(HTRA1)gene heterozygous mutation associated cerebral small vessel disease are relatively rare.Early and timely diagnosis and treatment can improve prognosis.The authors reported a 37 years old male patient admitted in Department of Neurology,the Second Affiliated Hospital of Nanchang University,whose initial symptom was transient right limb weakness,imaging suggested white matter lesions and the gene screening showed HTRA1(c.854 C＞T/p.Pro285Leu)heterozygous mutation.A family survey has been conducted and the characteristics of patients in this family are as follows:they present with ischemic cerebrovascular disease,coexist with cervical or lumbar disc herniation,male patients have hair loss,some patients have cognitive dysfunction,men tend to develop the disease at an earlier age than women,and the onset age is progressively earlier from generation to generation.Therefore,for young ischemic cerebrovascular disease patients with hair loss,cognitive dysfunction,cervical or lumbar disc herniation,and obvious white matter lesions on imaging,especially those without common risk factors for cerebrovascular disease,a family history should be inquired and genetic testing should be performed to screen for HTRA1 mutations.关键词
大脑小血管病/脑梗死/HTRA丝氨酸肽酶1/突变,误义/遗传性脑小血管病Key words
Cerebral small vessel disease/Brain infarction/High-temperature requirement A serine peptidase 1/Mutation,missense/Hereditary cerebral small vessel disease引用本文复制引用
胡娟娟,李轲,曾晓霞,李萍,胡帅,漆学良..HTRA丝氨酸肽酶1基因杂合突变致相关脑小血管病一家系报道[J].中国脑血管病杂志,2024,21(10):688-692,5.
