Genetic risk factors associated with thrombosis in children with congenital neurologic disorders

Journal of Child Neurology

Volumn 20, Issue 6, 2005, Pages 509-512

  Tzoufi, Meropi ^a   Giotopoulou, Stella ^a   Papadimitriou, Photeini ^a   Dokou, Eleni ^a   Kolaitis, Nikolaos I ^a   Siamopoulou, Antigoni ^a   Vartholomatos, George ^a,b  

^a UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

^b NONE   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANTITHROMBIN III; BLOOD CLOTTING FACTOR 5 LEIDEN; IMMUNOGLOBULIN G; LUPUS ANTICOAGULANT; PHOSPHOLIPID ANTIBODY; PROTEIN C; PROTEIN S; PROTHROMBIN;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; MALE; NEUROLOGIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; RISK FACTOR; THROMBOGENESIS; THROMBOPHILIA; THROMBOSIS;

EID: 22544466966     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200060701     Document Type: Article

References (46)

1. Andrew ME, Monagle P, de Veber G, Chan AKC: Thromboembolic disease and antithrombotic therapy in newborns. Hematology 2001;358-374.
2. Kenet G, Sadetzki S, Murad H, et al: Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children. Stroke 2000;31:1283-1288.
3. Nowak-Göttl U, Sträter R, Dubbers A, et al: Ischaemic stroke in infancy and childhood: Role of the Arg506 to Gln mutation in factor V gene. Blood Coagul Fibrinolysis 1996:7:684-688.
4. Barren TF, Gusnard DA, Zimmerman RA, Clancy RR: Cerebral venous thrombosis in neonates and children. Pediatr Neurol 1992;8:112-116.
5. Wiznitzer M, Masaryk TJ: Cerebrovascular abnormalities in pediatric stroke: Assessment using parenchymal and angiographic magnetic resonance imaging. Ann Neurol 1991;29:585-589.
6. Adams RJ, Nichols FT, Figueroa R, et al: Transcranial Doppler correlation with cerebral angiography in sickle cell disease. Stroke 1992;23:1073-1077.
7. Bertina RM, Koelman BPC, Rosendaal FR, et al: Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64.
8. Poort SR, Rosendaal FR, Reitsma PE, Bertina RM: A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703.
9. Frosst P, Blom HJ, Milos R, et al: A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1996:10:111-113.
10. Bucciarelli P, Rosendaal FR, Tripodi A, et al, on behalf of the GIRTE (Italian Research Group on Inherited Thrombophilia): Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activates protein C resistance. Arterioscler Thromb Vasc Biol 1999;19:1026-1033.
11. Greaves M: Antiphospholipid antibodies and thrombosis. Lancet 1999;353:1348-1353.
12. Sträter R, Veilhaber H, Kassenböhmer R, et al: Genetic risk factors of thrombophilia in ischaemic childhood stroke of cardiac origin. A prospective ESPED survey. Eur J Pediatr 1999;158(Suppl 3):S122-S125.
13. Nowak-Göttl U, Koch HG, Aschka I, et al: Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism. Br J Haematol 1996:92:992-998.
14. Heller C, Becker S, Scharrer I, Kreuz W: Prothrombotic risk factors in childhood stroke and venous thrombosis. Eur J Pediatr 1999;158(Suppl 3):S117-S121.
15. Altman DG, Machin D, Bryant TN, Gardner MJ: Statistics with Confidence, 2nd ed. Bristol, UK, BMJ Books, 2000.
16. Andrew M: Developmental hemostasis: Relevance to thromboembolic complications in pediatric patients. Thromb Haemost 1995;74:416-425.
17. Eriksson JG, Forsen T, Tuomilehto J, et al: Early growth, adult income and risk of stroke. Stroke 2000:31:869-874.
18. Martyn CV, Barker DJ, Osmond C: Mothers' pelvic size, fetal growth and death from stroke and coronary heart disease in men in the U.K. Lancet 1996;348:1264-1268.
19. Nicolaides P, Appleton RE: Stroke in children. Dev Med Child Neurol 1996;38:172-180.
20. Schoenberg BS, Mellinger JF, Schoenberg DG: Cerebrovascular disease in infants and children: A study of incidence, clinical features and survival. Neurology 1978;28:763-768.
21. Zenz W, Bodo Z, Plotho J, et al: Factor V Leiden and prothrombin gene G20210A variant in children with ischemic stroke. Thromb Haemost 1998;80:763-766.
22. Günther G, Junker R, Sträter R, et al, for the Childhood Stroke Study Group: Symptomatic ischemic stroke in full-term neonates. Role of acquired and genetic prothrombotic risk factors. Stroke 2000;31:2437-2441.
23. Debus O, Koch HG, Kurlemann G, et al: Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly. Arch Dis Child Fetal Neonatal Ed 1998;78:F121-F124.
24. Schobess R, Junker R, Auberger K, et al: Factor V G1691A and prothrombin G20210A in childhood spontaneous venous thrombosis - Evidence of an age-dependent thrombotic onset in carriers of factor V G1691A and prothrombin G20210A mutation. Eur J Pediatr 1999;158(Suppl 3):S105-S108.
25. Varelas PN, Sleight BJ, Rinder HM, et al: Stroke in a neonate heterozygous for factor V Leiden. Pediatr Neurol 1998;18:262-264.
26. Petaja J, Hiltunen L, Fellman V: Increased risk of intraventricular hemorrhage in preterm infants with thrombophilia. Pediatr Res 2001:49:643-646.
27. Mercuri E, Cowan F, Gupte G, et al: Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction. Pediatrics 2001;107:1400-1404.
28. Kirkham FJ, Prengler Hewes DK, Ganesan V: Risk factors for arterial ischemic stroke in children. J Child Neurol 2000:15:299-307.
29. Von Kries R, Junker R, Oberle D, et al: Foetal growth restriction in children with prothrombotic risk factors. Thromb Haemost 2001;86:1012-1016.
30. Cattaneo M: Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 1999;81:165-176.
31. Eichinger S, Stuempflen A, Hirsch M, et al: Hyperhomocysteinemia is a risk factor of recurrent venous thromboembolism. Thromb Haemost 1998;80:566-569.
32. Den Heijer M, Koster T, Blom HJ, et al: Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. N Engl J Med 1996;334:759-762.
33. Den Heijer M, Rosendaal F, Blom H, et al: Hyperhomocysteinemia and venous thrombosis: A meta-analysis. Thromb Haemost 1998;80:874-877.
34. Arruda VR, von Zuben PM, Chiaparini LC, et al: The mutation Ala677→Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thromb Haemost 1997:77:818-821.
35. Morita H, Taguchi J, Kurihara H, et al: Gene polymorphism of 5, 10-methylenetetrahydrofolate reductase as a coronary risk factor. J Cardiol 1997;29:309-315.
36. Kluijtmans LA, van den Heuvel LP, Boers GH, et al: Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996:58:35-41.
37. Kluijtmans LA, Kastelein JJ, Lindemans J, et al: Thermolabile methylenetetrahydrofolate reductase in coronary artery disease. Circulation 1997:96:2573-2577.
38. Gemmati D, Serino ML, Trivellato C, et al: C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Haematologica 1999;84:824-828.
39. Koch HG, Nabel P, Junker R, et al: The 677T genotype of the common MTHFR thermolabile variant and fasting homocysteine in childhood venous thrombosis. Eur J Pediatr 1999;158(Suppl 3):S113-S116.
40. Lanthier S, Carmant L, David M, et al: Stroke in children: The coexistence of multiple risk factors predicts poor outcome. Neurology 2000;54:371-378.
41. Nowak-Göttl U, Junker R, Kreuz W, et al: Childhood thrombophilia Study Group. Risk of recurrent venous thrombosis in children with combined prothrombotic risk factors. Blood 2001;97:858-862.
42. Zalavras CG, Giotopoulou S, Dokou E, et al: Lack of association between C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece. Int Angiol 2002;21:268-271.
43. Botto LD, Yang Q: 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review. Am J Epidemiol 2000:151:862-877.
44. Salomon O, Steinberg DM, Zivelin A, et al: Single and combined prothrombotic factors in patients with idiopathic venous thromboembolism: Prevalence and risk assessment. Arterioscler Thromb Vasc Biol 1999;19:511-518.
45. De Stefano V, Casorelli I, Rossi E, et al: Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism. Semin Thromb Hemost 2000:26:305-311.
46. De Veber G, Monagle P, Chan A, et al: Prothrombotic disorders in infants and children with cerebral thromboembolism. Arch Neurol 1998;55:1539-1543.