Stroke Genetics Update

Alberts, Mark J.

doi:10.1161/01.str.0000054263.67434.be

Cited by 33 publications

(19 citation statements)

References 28 publications

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“…Several forms of thrombotic event-associated cerebrovascular diseases of adulthood are now viewed as multicausal disease groups with genetic susceptibility factors in the pathogenesis [1,2] . Contrary to the recent progress in this fi eld, the neonatal cerebrovascular events are hardly investigated [11] .…”

Section: Discussionmentioning

confidence: 99%

“…With special emphasis to thrombophilic molecular abnormalities, remarkable advances have recently been achieved regarding the understanding of the genetic susceptibility factors in the cerebrovascular diseases of adulthood [1][2][3][4][5] . Several lines of genetic evidence suggest that subtypes of similar or even clinically identical disease phenotypes can be differentiated from each other in genetic context [3][4][5][6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

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Increased Prevalence of Factor V Leiden Mutation in Premature but Not in Full-Term Infants with Grade I Intracranial Haemorrhage

Komlósi

Havasi²,

Bene³

et al. 2005

Neonatology

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Objectives: In the current prospective study our aim was to analyse the distribution of the factor V Leiden (G1691A) mutation in preterm and full-term neonates with grade I intraventricular haemorrhage and in control neonates. Study Method: A group of 125 individually selected neonates with grade I intraventricular haemorrhage and 128 controls were investigated. Results: The allele frequency was 7.2% in the total population of affected infants while it was 3.9% in the controls (p < 0.05); the latter corresponds to an average European allele frequency in healthy populations. When the infants were grouped as premature (<2,500 g and ≤36 weeks of gestational age) and appropriate for gestational age full-term infants the statistical analysis revealed an increased prevalence of the mutation in the premature group (10% allele frequency vs. 4.8% in the controls, p < 0.05), and a normal prevalence in the mature group (4.6 vs. 3.1%, respectively); therefore, the overall increase was due to the increase of incidence rate in preterm neonates. Conclusions: These data confirm our previous results and suggest that as the preterm and term infants differ from each other in haemorrhage susceptibility in many clinical particulars, carrying of the mutation has probably also a different impact in premature and in full-term infants with respect to the intraventricular haemorrhage.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Increased Prevalence of Factor V Leiden Mutation in Premature but Not in Full-Term Infants with Grade I Intracranial Haemorrhage

Komlósi

Havasi²,

Bene³

et al. 2005

Neonatology

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“…Familial, twin, and genetic epidemiological studies have recently shown the influence of genetic factors at determining stroke susceptibility, although they are still largely uncharacterized [Alberts, 2003]. A susceptibility locus (STRK1) has been identified on 5q12 [Gretarsdottir et al, 2002], and several polymorphisms in candidate genes, among which there are several blood coagulation and fibrinolysis genes, have been found associated with the disease [Catto, 2001].…”

Section: Discussionmentioning

confidence: 99%

Human vitamin K-dependentGAS6: Gene structure, allelic variation, and association with stroke

Muñoz¹,

Sumoy

Ramírez-Lorca

et al. 2004

Hum. Mutat.

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The product of the growth arrest-specific gene 6 (GAS6), a ligand for the Axl, Sky, and Mer tyrosine kinase receptors, is a vitamin K-dependent protein, structurally related to anticoagulant protein S. Gas6-deficient mice are protected against thrombosis, demonstrating the importance of this protein in the cardiovascular system. The present study was aimed at determining the human GAS6 intron-exon structure and analyzing the gene for the presence of allelic variants that could be associated with atherothrombotic disease. Online analyses allowed us to localize 15 GAS6 exons and to determine the sequence of their intron-flanking regions, in a chromosome 13 region spanning 43.8 kb of DNA. SSCP analysis of PCR-amplified GAS6 exons with their intron-flanking regions from a minimum of 12 control DNA samples, revealed the presence of eight different variants, which were confirmed to be single nucleotide polymorphisms (SNPs). Three of them (c.1263G>C, c.1332C>T, and c.1869T>C) are localized in exons 11, 12, and 14, and appear to be neutral since they do not modify the encoded amino acid. The other SNPs (c.280+170C>G, c.712+26G>A, c.713-155C>T, c.834+7G>A, and c.1478-94C>G) are in introns 3, 7, 8, and 12. A preliminary analysis of five of these SNPs in a group of 110 healthy controls and 188 patients with atherothrombotic disease has revealed statistically significant differences between controls and stroke patients in the allelic distributions of one of these variants (c.834+7G>A in intron 8). The SNP identification in GAS6 reported here would be very useful in future association studies aimed at determining the physiologic role of GAS6 in stroke and other human diseases.

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“…Genetic errors have been reported in an increasing number of studies (6). A genetic component of factor V recently has been described (7) that contributes to resistance to protein C both in absence and presence of factor V 1691 G-A.…”

Section: Geneticsmentioning

confidence: 99%

Lacunar Infarct

Lastilla

2006

Clinical and Experimental Hypertension

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The term lacuna, or cerebral infarct, refers to a well-defined, subcortical ischemic lesion at the level of a single perforating artery, determined by primary disease of the latter. The radiological image is that of a small, deep infarct. Arteries undergoing these alterations are deep or perforating arteries with a diameter ranging between 100 and 400 microm, numbering 6-12, that generally originate at right angles directly from the main arteries. The concept of lacunar syndrome was introduced in clinical practice to describe those clinical pictures that generally, although not always, have a cerebral infarct of lacunar type as the underlying mechanism. Classic clinical syndromes induced by lacunar infarcts are, in decreasing order of frequency, pure motor stroke, pure sensory stroke, sensorimotor stroke, ataxic hemiparesis, and dysarthria with motor disability of one hand, as well as a number of rare or incomplete syndromes. Small lacunar infarct that will then degenerate into a lacuna is caused by a reduction of blood flow to a perforating artery. In turn, this is the result of various arterial disorders, the most frequent of which include microatheroma, lipohyalinosis, fibrinoid necrosis, and Charcot-Bouchard aneurysm. Other forms of arteriopathy that can affect small vessels include amyloid angiopathy, and cerebral autosomic dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Hemodynamic disorders also can be a cause of the disease. Diagnosis is made with 1,5 Tesla MRI and prognosis is generally good.

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Stroke Genetics Update

Cited by 33 publications

References 28 publications

Increased Prevalence of Factor V Leiden Mutation in Premature but Not in Full-Term Infants with Grade I Intracranial Haemorrhage

Increased Prevalence of Factor V Leiden Mutation in Premature but Not in Full-Term Infants with Grade I Intracranial Haemorrhage

Human vitamin K-dependentGAS6: Gene structure, allelic variation, and association with stroke

Lacunar Infarct

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