Poster

  • P97

Reversible cerebral vasoconstriction syndrome and polymorphisms of thrombophilia genes.

Beitrag in

Poster session 9

Posterthemen

Mitwirkende

Shadi Zamanian (Mashhad/ IR)

Abstract

Abstract text (incl. figure legends and references)

Background and aims:

(RCVS)characterized by the acute intense headache, focal and/or universal cerebral

symptoms, epileptic paroxysms,accompanied by reversible

segmental multifocal cerebral vasospasm, which disappears in three months.Aim of our study was to identify gene polymorphisms predisposing

to hereditarv thrombophilia in REVS patients

Methods: 24 patients (age 38+11 years) with RCVS were examined: 19 women (79.1%) aged 38.0+11.4 years,5 men

(20.8%) aged 38.2+11.3 years. There didn't find significant gender difference in age. Investigation included routine

clinica and neurological examination,neurolayme research methods (brain MRI on 1.5T or 3T, MR arterio-graphy) and molecular genetic study of polymorphisms predisposing to thrombophilia: G20210A of prothrombin

gene,C677T methylenetetrahydrofolate reductase gene, 675 4G/5G gene of endothelial plasminogen activator inhibitor (PA1-1, SERPINE1), 455 G/A gene of the beta-polypeptide chain of fioninogen

Results: Polymorphism G20210A in the prothrombin gene was not detected in the examined patients. Heterozygous

carriage in the methylenetetrahydrofolate reductase gene was observed in 10 patients - in nine women and one man

(43.5%), homozygous-in two women (8.3%). Polymorphism of the endothelial plasminogen activator inhibitor gene was

detected in 16 patients (12 women and four men) in the heterozygous state (66.7%) and in three - in the homozygous

state (12.5%). Polymorphism 455 G/A was detected in heterozygous state in six patients (25%): five women and

one man and in homozygous state in four patients 16.7%- two women and two men

Conclusion: The role of the revealed changes in the development of the complicated course of CVS requires

further study.

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