Literature DB >> 21113717

MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations.

Carla Arpino1, Eliana Compagnone, Denise Cacciatore, Antonella Coniglio, Mario Castorina, Paolo Curatolo.   

Abstract

BACKGROUND: Stroke in pediatric age is a rare event with a multifactorial genesis which could involve genetic factors as methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism. At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage. PATIENTS AND METHODS: We describe two children presenting with presumed cerebral stroke born from two MC twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively. Brain damage was diagnosed immediately before the delivery.
CONCLUSION: Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.

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Year:  2010        PMID: 21113717     DOI: 10.1007/s00381-010-1340-6

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  21 in total

Review 1.  Adverse perinatal outcome of twin pregnancies according to chorionicity: review of the literature.

Authors:  D M Sherer
Journal:  Am J Perinatol       Date:  2001       Impact factor: 1.862

2.  Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss.

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Journal:  Am J Obstet Gynecol       Date:  1999-07       Impact factor: 8.661

Review 3.  Epidemiology of perinatal stroke.

Authors:  J K Lynch; K B Nelson
Journal:  Curr Opin Pediatr       Date:  2001-12       Impact factor: 2.856

4.  Perinatal cortical infarction within middle cerebral artery trunks.

Authors:  P Govaert; E Matthys; A Zecic; F Roelens; A Oostra; B Vanzieleghem
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-01       Impact factor: 5.747

5.  Consequences of in-utero death in a twin pregnancy.

Authors:  P O Pharoah; Y Adi
Journal:  Lancet       Date:  2000-05-06       Impact factor: 79.321

6.  Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses.

Authors:  N Mtiraoui; W Zammiti; L Ghazouani; N Jmili Braham; S Saidi; R R Finan; W Y Almawi; T Mahjoub
Journal:  Reproduction       Date:  2006-02       Impact factor: 3.906

7.  Associations between fetal inherited thrombophilia and adverse pregnancy outcomes.

Authors:  Catherine S Gibson; Alastair H MacLennan; Nard G Janssen; Willem J Kist; William M Hague; Eric A Haan; Paul N Goldwater; Kevin Priest; Gustaaf A Dekker
Journal:  Am J Obstet Gynecol       Date:  2006-04       Impact factor: 8.661

8.  Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

Authors:  P F Jacques; A G Bostom; R R Williams; R C Ellison; J H Eckfeldt; I H Rosenberg; J Selhub; R Rozen
Journal:  Circulation       Date:  1996-01-01       Impact factor: 29.690

9.  Homocysteine and stroke: evidence on a causal link from mendelian randomisation.

Authors:  Juan P Casas; Leonelo E Bautista; Liam Smeeth; Pankaj Sharma; Aroon D Hingorani
Journal:  Lancet       Date:  2005 Jan 15-21       Impact factor: 79.321

10.  The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature.

Authors:  Ivy Altomare; Alan Adler; Louis M Aledort
Journal:  Thromb J       Date:  2007-10-17
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  2 in total

1.  The importance of MTHFR polymorphisms in pediatric cerebral stroke.

Authors:  Ekrem Unal; Fatma Turkan Mutlu; Musa Karakukcu
Journal:  Childs Nerv Syst       Date:  2011-10-27       Impact factor: 1.475

2.  Is the 1298A>C polymorphism in the MTHFR gene a risk factor for arterial ischaemic stroke in children? The results of meta-analysis.

Authors:  Beata Sarecka-Hujar; Ilona Kopyta; Michal Skrzypek
Journal:  Clin Exp Med       Date:  2018-02-02       Impact factor: 3.984

  2 in total

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