Cerebral venous sinus thrombosis caused by SERPINC1 gene mutation： A case report
10.19845/j.cnki.zfysjjbzz.2025.0051
- VernacularTitle:SERPINC1基因突变致颅内静脉窦血栓形成1例报告
- Author:
Yaqi DING
1
;
Dian HE
1
Author Information
1. Neurology Department， The Affiliated Hospital of Guizhou Medical University， Guizhou 550004， China
- Publication Type:Journal Article
- Keywords:
Cerebral venous sinus thrombosis;
SERPINC1;
Antithrombin deficiency
- From:
Journal of Apoplexy and Nervous Diseases
2025;42(3):255-257
- CountryChina
- Language:Chinese
-
Abstract:
Cerebral venous sinus thrombosis （CVST） is a rare cerebrovascular disease characterized by the formation of blood clots in the intracranial venous system due to various causes， resulting in obstruction of intracranial blood flow or cerebrospinal fluid circulation disorder. This disease often has diverse clinical symptoms， including increased intracranial pressure and focal neurological deficits. Antithrombin Ⅲ （AT Ⅲ）， encoded by the SERPINC1 gene， acts as a serine protease inhibitor for thrombin and coagulation factors Ⅻα， Ⅺα， Ⅸα， and Ⅹα， and antithrombin deficiency caused by SERPINC1 gene mutations is a risk factor for thrombosis. This article reports a case of CVST due to ATⅢ deficiency caused by common mutations in both the intron and exon regions of the SERPINC1 gene in our hospital.
