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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 13-year-old Greek girl with pyruvate kinase deficiency and moya moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene. She presented with neonatal onset of anemia, hemolytic and aplastic crises, especially during infections, stroke, and also progressive motor and mental deterioration. A digital cranial angiography at 13 years revealed the typical angiographic findings of moya moya angiopathy. This is likely the first patient with pyruvate kinase deficiency and moya moya syndrome and also the combination of elevated serum lipoprotein (a) concentration and the C677T mutation of the methylenetetrahydrofolate reductase gene to be reported. In patients with pyruvate kinase deficiency and moya moya syndrome, a search for raised serum lipoprotein (a) concentrations and the C677T mutation of the methylenetetrahydrofolate reductase gene should be considered.
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PMID:Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors. 1762 33

The authors describe 2 female cousins with neonatal stroke. One was heterozygous for the plasminogen activator inhibitor-1 4G variant and compound heterozygous for the A1298C and C677T methylenetetrahydrofolate reductase mutations. Her cousin was homozygous for the plasminogen activator inhibitor-1 4G variant and heterozygous for the methylenetetrahydrofolate reductase A1298C and factor V Leiden mutations.
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PMID:Two cousins with neonatal stroke, PAI-1 4G variant and MTHFR A1298C mutation. 1764 Dec 64

Previous studies have suggested that both angiotensin II type-1 receptor (AT1R) 1166C and methylenetetrahydrofolate reductase (MTHFR) 677T variants can have disadvantageous effects on the small-vessel circulation under certain conditions. The purpose of this study was to analyze the possible consequences of the simultaneous distribution of these two genetic variants in different types of ischemic stroke. The genetic and clinical data on 357 ischemic stroke patients and 263 control subjects were analyzed by using univariate and logistic statistical approaches. Neither the MTHFR 677T nor the AT1R 1166C genetic variant alone conferred the risk of any subtype of ischemic stroke. The combination of the homozygous MTHFR 677TT genotype and at least one AT1R 1166C allele occurred more frequently in the ischemic stroke patients (8.68%) than in the controls (4.56%, p < 0.05). Specific subclassification of the patients revealed an accumulation of this combination in small-vessel-associated ischemic stroke (12.2%, p < 0.01); multivariate logistic regression analysis of the data confirmed this association, with an odds ratio of 2.66 (95% confidence interval, 1.28-7.89; p < 0.05). These findings suggest that the combination of these two genetic factors can contribute to the development of small-vessel cerebral infarcts. Although the exact mechanism of action is not known, addition of the unfavourable effects on the endothelial function can be presumed.
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PMID:The combination of homozygous MTHFR 677T and angiotensin II type-1 receptor 1166C variants confers the risk of small-vessel-associated ischemic stroke. 1772 26

Plasma homocysteine (Hcy) concentration has been shown to be influenced by a mutation in the gene coding methylenetetrahydrofolate reductase (MTHFR). Although plasma Hcy has been shown to be related to atherosclerotic disorders, the association between MTHFR gene polymorphism and ischemic stroke remains controversial. In the present study we investigated the association between MTHFR gene polymorphism and risk factor-dependent augmentation for ischemic stroke in subjects with several risk factors for atherosclerosis, with special emphasis on the risk factor-gene interaction. The diagnosis of cerebral infarction in each patient was confirmed by computed tomography (CT) findings of the brain. MTHFR C677T polymorphism was genotyped with a conventional method. In 97 stroke patients (48 cases of atherothrombotic infarction, 38 cases of lacunar infarction, 9 cases of cardiac embolism, 2 others) and 241 age-and sex-matched healthy control subjects, the frequencies of the T allele were 0.44 and 0.39, respectively. In patients with CT-proven atherothrombotic infarction, the T allele frequency was 0.54 (P = .033 vs controls). The adjusted odds ratio in subjects with TT genotype for atherothrombotic infarction was 3.87 (95% confidence interval = 1.27-11.8). A general linear model analysis showed that an interaction between the HDL-C and MTHFR genotype was significantly associated with atherothrombotic infarction (F = 5.695; P = .018). These findings indicate that the T allele of the MTHFR gene is significantly associated with atherothrombotic infarction. Furthermore, the analysis of risk factor-gene interaction could be a useful tool for deriving specific predictive information about ischemic stroke in an elderly Japanese population.
J Stroke Cerebrovasc Dis
PMID:An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and ischemic stroke. 1790 3

The aim of this study was to evaluate the prevalence of factor V Leiden (FVL), prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations, and angiotensin-converting enzyme (ACE) I/D polymorphism in ischemic stroke (IS) patients. A total of 162 Turkish IS patients were included and analyzed according to stroke subtype by the TOAST classification. Their genotype data were compared with those of the control group, representing the healthy population, using the chi(2) test. The frequency of FVL heterozygocity was 12.3% in this series-higher than that in the normal population (9.8%; statistically insignificant, P = .478). The frequency of the ACE D/D genotype in all stroke patients and those with stroke of undetermined etiology was higher than that in our population (52.5% and 59.2%, respectively, vs 39.3%; statistically significant, P = .034, P = .020). Our results may suggest that ACE D/D genotype is a risk factor for IS, particularly in those with stroke of undetermined etiology in the Turkish population.
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PMID:Prevalence of thrombophilic mutations and ACE I/D polymorphism in Turkish ischemic stroke patients. 1838 82

There is considerable interest in plasma homocysteine (tHcy) as a CVD risk factor. Although the secondary prevention trials published to date have been inconclusive in confirming a benefit of tHcy-lowering treatment with B-vitamins on CVD events generally, such studies are widely recognised to have been insufficiently powered to detect a significant effect for the predicted magnitude of association between tHcy and heart disease risk, and therefore cannot be interpreted as evidence that no relationship exists. In fact, a recent meta-analysis of clinical trials has confirmed that folic acid supplementation reduces the risk of stroke, particularly in individuals without a history of stroke. Evidence supporting a causal relationship between elevated tHcy and heart disease also comes from genetic studies. The most important genetic determinant of tHcy in the general population is the common C677T variant in methylenetetrahydrofolate reductase (MTHFR) that results in higher tHcy. Individuals with the homozygous mutant (TT) genotype have a significantly higher (14-21%) risk of heart disease. Plasma tHcy is very responsive to intervention with the B-vitamins required for its metabolism, in particular folic acid, and to a lesser extent vitamins B12 and B6. Thus, although primarily aimed at reducing neural-tube defects, folic acid fortification may have an important role in the primary prevention of CVD via tHcy lowering. Besides folate, riboflavin is required as a cofactor for MTHFR and enhanced riboflavin status results in a marked lowering in tHcy specifically in individuals with the TT genotype, presumably by neutralising the variant form of the enzyme. About 10% of the UK and Irish populations have the TT genotype. In the present paper the potential role of folate and related B-vitamins in the primary prevention of CVD and the implications for nutrition policy are explored.
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PMID:Homocysteine, B-vitamins and CVD. 1841 97

The use of oral contraceptives (OCs) confers an increased risk for ischaemic stroke (IS). This risk slightly decreases, but remains significant, if low-dose formulations are used, particularly if other risk factors, such as hypertension or smoking, are associated. Some inherited prothrombotic conditions (e.g., Factor V Leiden, G20210A prothrombin or methylenetetrahydrofolate reductase C677T polymorphism) could also greatly increase the IS risk if present in OC users. Migraine, particularly with aura, is an independent risk factor for IS, and the patient's IS risk is probably affected by other individual risk factors (e.g., age, genetic predisposition to thrombosis, presence of patent foramen ovale or enhanced platelet aggregation) which seem to be over-represented in migraine patients. IS risk among migraineurs is further increased when OCs are currently used and can become very high if associated with smoking. Consequently, in 2004 the WHO stated in its 'Medical Eligibility Criteria for Contraceptive Use' that women suffering from migraine with aura at any age should never use OCs. Moreover, since the exposure to the effects of OCs may greatly increase the IS risk in some migraine subpopulations with specific personal characteristic, testing for these risk factors may allow for more accurate stratification of the population at risk before long-term use of OCs is prescribed.
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PMID:Migraine and stroke: the role of oral contraceptives. 1854 87

The patient had suffered from left hemiparesis at the age of thirteen months, and acute ischemic stroke of unknown etiology had been diagnosed at that time. His hemiparesis gradually disappeared and he was discharged two weeks after the onset without disability. At the age of 17 years, MRI following minor head trauma revealed cerebral infarctions located at the right corona radiata and basal ganglia. Laboratory findings showed hyperhomocysteinemia. Genetic study disclosed methylenetetrahydrofolate reductase deficiency (MTHFRD) (valine/valine type). MTHFRD is not detected by the routine infantile mass screening test for congenital amino acid metabolic disease, and should be considered in any patient with ischemic stroke at under two years of age.
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PMID:[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency]. 1861 55

In a 12-member, 3-generation kindred with conjoint inheritance of G1691A factor V Leiden (FVL) and G20210A prothrombin gene (PTG) mutations, identified through a proband with amaurosis fugax and his father with nonarteritic ischemic optic neuropathy (NAION), the authors' hypothesis was that ocular thrombosis was a diagnostic window to familial thrombophilia-thrombosis. The authors used polymerase chain reaction (PCR) measures for thrombophilia (FVL, PTG, C677T-A1298C methylenetetrahydrofolate reductase [MTHFR], platelet glycoprotein PLA1A2) and hypofibrinolysis (plasminogen activator inhibitor-1 4G4G). The 39-year-old white male proband, with amaurosis fugax and transient ischemic attacks (TIA), was found to be a compound heterozygote for FVL and PTG mutations. His symptoms resolved only after coumadin. His 44-year-old brother (deep venous thrombosis [DVT]) and 46-year-old sister (DVT, pulmonary embolus [PE]) were compound FVL-PTG gene heterozygotes. Of 4 asymptomatic children born to these 3 siblings, 2 were FVL heterozygotes and 2 PTG heterozygotes. The proband's 69-year-old father, with NAION and ischemic stroke, had PTG heterozygosity, familial high factor VIII, and compound MTHFR C677T-A1298C mutation with homocysteinemia. The proband's 61-year-old aunt had PTG heterozygosity, recurrent DVT, and mesenteric artery thrombosis. The proband's 67-year-old mother, free of thrombotic events, was a FVL heterozygote, had high factor VIII, and PAI-1 4G4G homozygosity. In this extended kindred, ocular thrombotic events (amaurosis fugax, NAION) were associated with variegated thrombotic events, including TIA, ischemic stroke, DVT, PE, and mesenteric artery thrombosis, and opened a diagnostic window to family screening and treatment for complex thrombophilias, which had previously been undiagnosed.
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PMID:Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis. 1879 59

The T allele of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been shown to be a risk factor for stroke. Previous meta-analyses have shown that the individuals with the TT genotype have 1.26-1.37 times the risk for stroke as compared to those with the CC genotype. We performed a meta-analysis of all 5 Japanese studies that investigated the relationship between the MTHFR 677T allele and stroke. The risk of stroke was found to increase in a dose-dependent manner (OR for CT genotype: 1.35, 95% CI; 1.07-1.31, OR for TT genotype: 2.05, 95%CI; 1.51-2.78). This estimate was almost twice as high as those reported from Europe, suggesting that Japanese individuals may be more susceptible to stroke related to the MTHFR 677T allele, although this may be due to publication biases. Two studies have reported that the MTHFR 677T allele is a risk factor for leukoaraiosis, and many studies have investigated whether the MTHFR 677T allele is a risk factor for dementia, especially Alzheimer's disease. We performed a systematic review of all the 21 published articles on the relationship between the MTHFR 677T allele and dementia. Of the 21 studies, 4 used multivariate analysis. Of the remaining 17 studies, which used univariate analysis, only 4 employed matched controls. The reported adjusted OR for Alzheimer's disease was 1.54 or 1.73 for the TT genotype vs the CC genotype and 0.96 or 1.31 per T allele. None of these results are statistically significant. Although the combined unadjusted ORs for Alzheimer's disease and vascular dementia were 1.18 (95%CI; 0.94-1.49) and 1.33 (95%CI; 0.66-2.68) respectively, these estimates were undermined by the heterogeneity and the possible persence of potential confounding variables.
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PMID:[Stroke and the genetics of hyperhomocysteinemia]. 1906 63


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