A family report of cerebral small vessel disease caused by heterozygous mutation of HTRA serine peptidase 1 gene
10.3969/j.issn.1672-5921.2024.10.007
- VernacularTitle: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
- Author:
Juanjuan HU
1
;
Ke LI
;
Xiaoxia ZENG
;
Ping LI
;
Shuai HU
;
Xueliang QI
Author Information
1. 330000 南昌大学第二附属医院神经内科
- Keywords:
Cerebral small vessel disease;
Brain infarction;
High-temperature requirement A serine peptidase 1;
Mutation,missense;
Hereditary cerebral small vessel disease
- From:
Chinese Journal of Cerebrovascular Diseases
2024;21(10):688-692
- CountryChina
- Language:Chinese
-
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.
