Author(s)

Elyar Sadeghi-Hokmabadi¹, Ebrahim Sakhinia^2*, Mehdi Farhoudi^1*, Somayyeh Hasaneh¹, Morteza Ghojazadeh³, Mohammad Amin Farzi¹, Sasan Andalib⁴, Masoumeh Nemati², Omid Abbaszadeh¹, Reza Rikhtegar¹, Reshad Mirnour¹

¹Neurosciences Research Center, Department of Neurology, Imam-Reza Hospital, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
²Connective Tissue Research Center, Department of Medical Genetics, Faculty of Medicine and Tabriz Genetic Analysis Centre (TGAC), Tabriz University of Medical Sciences, Tabriz, Iran.
³Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
⁴Department of Neurosurgery, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.

Objective: Cerebral venous sinus thrombosis (CVST) is a life-threatening cerebrovascular disease which has high prevalence and mortality rate in Iran. Thrombophilia caused by gene mutation is a common cause of CVST. The present study aimed at assessing the prevalence of thrombophilic gene mutations in Iranian CVST patients and then comparing it with normal population. Materials and methods: In a case-control study, polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) and amplification-refractory mutation system (ARMS-PCR) were carried out to detect common thrombophilic mutations in 70 CVST patients. Next, it was compared with 82 sex- and age-matched healthy controls. Results: Factor-V-Leiden, Factor-V-Leiden HR2, Factor prothrombin II, MTHFR (667C/T) and MTHFR (1298A/C) prevalence were significantly high in cases of CVST as compared to the controls (P values: 0.012, 0.019, 0.007 and 0.036, respectively). However, there was no significant difference between the two groups in plasminogen activator inhibitor (PAI), angiotensin-converting enzyme (ACE), beta-fibrinogen (FGB), Factor VIII, Factor XIII, and tissue plasminogen activator (tPA) mutations. Conclusion: The findings of the present study suggest that Factor V-Leiden, Factor-V-Leiden HR2, prothrombin II (G20210A), and MTHFR (667C/T & 1298A/C) mutations are more frequent in CVST. Detection of these mutations may help clinicians to decide on the duration of treatment and referral to genetic counseling for valuable prevention.

Gene, Mutation, Cerebral Venous Sinus Thrombosis, Thrombophilia

Sadeghi-Hokmabadi, E. , Sakhinia, E. , Farhoudi, M. , Hasaneh, S. , Ghojazadeh, M. , Amin Farzi, M. , Andalib, S. , Nemati, M. , Abbaszadeh, O. , Rikhtegar, R. and Mirnour, R. (2017) Common Prothrombotic Gene Mutations in Cerebral Venous Sinus Thrombosis in North-West of Iran. Neuroscience and Medicine, 8, 68-76. doi: 10.4236/nm.2017.84009.