HTRA serine peptidase 1 gene heterozygous mutation-associated cerebral small vessel disease:a case report
10.3969/j.issn.1672-5921.2024.07.004
- VernacularTitle:HTRA丝氨酸肽酶1基因杂合突变相关脑小血管病一例
- Author:
Ruomeng CHEN
1
;
Xudong SU
;
Fucheng QIU
;
Xiaoyun LIU
Author Information
1. 050000 石家庄,河北医科大学第一医院神经内科
- Keywords:
Cerebral small vessel diseases;
Brain infarction;
High-temperature requirement A serine peptidase 1;
Mutation,missense;
Hereditary cerebral small vessel disease
- From:
Chinese Journal of Cerebrovascular Diseases
2024;21(7):467-471
- CountryChina
- Language:Chinese
-
Abstract:
A 52-year-old female patient diagnosed with hereditary cerebral small vessel disease(CSVD),with clinical manifestations of recurrent stroke and mild cognitive impairment was reported.There was no history of hypertension or diabetes,and her maternal grandparents were consanguineous.Her maternal grandmother and mother died of cerebral infarction.Cranial magnetic resonance imaging showed multiple lacunar cerebral infarcts,cerebral white matter degeneration and microhemorrhagic foci,and whole exome sequencing reported a heterozygous mutation c.947A＞G in the high-temperature requirement A serine peptidase 1(HTRA1).For patients with CSVD,the family history should be asked,and for patients with suspected hereditary CSVD,the possibility of HTRA1 heterozygous mutations should be considered.Reasonable use of genetic testing methods to screen high-risk families of CSVD patients and further guide treatment.
