Next Article in Journal
Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis
Previous Article in Journal
Envelope Following Response to 440 Hz Carrier Chirp-Modulated Tones Show Clinically Relevant Changes in Schizophrenia
Article

MTHFR Gene Polymorphisms and Cardiovascular Risk Factors, Clinical-Imagistic Features and Outcome in Cerebral Venous Sinus Thrombosis

1
Department of Neurology, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, Romania
2
Department of Pharmacology, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, Romania
3
Department of Neurosurgery, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, Romania
4
Department of Neurology, General Medicine Faculty, “Ovidius” University, 900470 Constanta, Romania
5
Department of Sport, Faculty of Physical Education and Sport, “Ovidius” University, 900470 Constanta, Romania
*
Author to whom correspondence should be addressed.
Brain Sci. 2021, 11(1), 23; https://doi.org/10.3390/brainsci11010023
Received: 15 November 2020 / Revised: 20 December 2020 / Accepted: 24 December 2020 / Published: 27 December 2020
Cerebral venous sinus thrombosis (CVST) as a severe neurological emergency, is represented by variable conditions in its clinic presentation, onset, risk factors, neuroimagistic features and outcome. The genetic polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C was associated with CVST. We aimed to characterize the prevalence of MTHFR gene polymorphisms associated with cardiovascular risk factors in the group of patients with CVST. Also, we studied additional causes associated with CVST including local infections, general infections, obstetric causes (pregnancy, puerperium) and head injury. This is a retrospective study including 114 patients which referred to our hospital between February 2012–February 2020. The protocol included demographic (age, sex), clinical, neuroimagistic features, paraclinic (genetic polymorphism of MTHFR, factor V G1691A—Leiden, prothrombin G20210A, PAI-1 675 4G/5G; Homocysteine level, the lipid profile, blood glucose and Glycohemoglobin HbA1c, high- sensitive C- reactive protein- hsCRP) data, as well as treatment and outcome. The mean age was 37.55 years with a female predominance (65.79%). In the first group of patients with inherited thrombophilia (60 cases; 52.63%) we found genetic mutation includes MTHFR C677T (38.59%) and A1298C (14.03%), factor V G1691A- Leiden (15.78%), prothrombin G20210A (2.63%), PAI-1 675 4G/5G (42.98%), and hyperhomocysteinemia (35.08%). At the second group with other etiology of CVST, except thrombophilia, we included 54 patients (47.36%). The most common sites of thrombosis were the superior sagittal sinus (52.63%). Headache was the most common symptom (91.22%) and seizures were the main clinical presentation (54.38%). The MTHFR polymorphism was significantly correlated with higher total cholesterol (TC) (p = 0.023), low- density lipoprotein cholesterol (LDL) (p = 0.008), homocysteine level (tHcy) (p < 0.001). Inside the first group with MTHFR polymorphism we have found a significant difference between the levels of homocysteine at the patients with MTHFR C677T versus MTHFR A1298C polymorphism (p < 0.001). The high-sensitive C-reactive protein (hsCRP) was increased in both groups of patients, but the level was much higher in the second group (p = 0.046). Mortality rate was of 2.63%. Demographic, clinical and neuroimagistic presentation of CVST in our study was similar with other studies on the matter, with a high frequency of thrombophilia causes. MTHFR gene polymorphisms (C677T and A1298C) are increased in prevalence in CVST. PAI-1 675 4G/5G gene mutation seems to be involved in CVST etiology. Plasma C-reactive protein level and hyperhomocysteinemia should be considered as a prognostic factor in CVST. View Full-Text
Keywords: cerebral venous sinus thrombosis; methylenetetrahydrofolate reductase gene; thrombophilia cerebral venous sinus thrombosis; methylenetetrahydrofolate reductase gene; thrombophilia
Show Figures

Figure 1

MDPI and ACS Style

Gogu, A.E.; Jianu, D.C.; Dumitrascu, V.; Ples, H.; Stroe, A.Z.; Docu Axelerad, D.; Docu Axelerad, A. MTHFR Gene Polymorphisms and Cardiovascular Risk Factors, Clinical-Imagistic Features and Outcome in Cerebral Venous Sinus Thrombosis. Brain Sci. 2021, 11, 23. https://doi.org/10.3390/brainsci11010023

AMA Style

Gogu AE, Jianu DC, Dumitrascu V, Ples H, Stroe AZ, Docu Axelerad D, Docu Axelerad A. MTHFR Gene Polymorphisms and Cardiovascular Risk Factors, Clinical-Imagistic Features and Outcome in Cerebral Venous Sinus Thrombosis. Brain Sciences. 2021; 11(1):23. https://doi.org/10.3390/brainsci11010023

Chicago/Turabian Style

Gogu, Anca E., Dragos C. Jianu, Victor Dumitrascu, Horia Ples, Alina Z. Stroe, Daniel Docu Axelerad, and Any Docu Axelerad. 2021. "MTHFR Gene Polymorphisms and Cardiovascular Risk Factors, Clinical-Imagistic Features and Outcome in Cerebral Venous Sinus Thrombosis" Brain Sciences 11, no. 1: 23. https://doi.org/10.3390/brainsci11010023

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop