This work was part of a collaboration between Grupo de Neurogenética e Saúde Mental, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, INSA, Lisboa, and Genetic Epidemiology Group, Department of Epidemiology and Public Health, University College of London, London. Samples collection was supported by fellowship PECS/T/SAU/179/95, from Fundação para a Ciência e a Tecnologia (FCT; Portug...
Various genome-wide association studies (GWAS) have been done in ischaemic stroke, identifying a few loci associated with the disease, but sample sizes have been 3500 cases or less. We established the METASTROKE collaboration with the aim of validating associations from previous GWAS and identifying novel genetic associations through meta-analysis of GWAS datasets for ischaemic stroke and its subtypes.
A complex interplay between genetic background, clinical and life-style factors and the environment is expected to ultimately regulate the onset, acute phase and outcome of stroke. There is substantial evidence that inflammation within the Central Nervous System contributes to stroke risk, and known clinical risk factors for stroke, like atherosclerosis, diabetes, obesity, hypertension, and peripheral infection...
Stroke is a major cause of morbidity in developed countries and therefore finding adequate treatments to promote patient’s recovery is a priority task, requiring the elucidation of the molecular pathways influencing brain recovery. Few studies, however, have assessed the role of genes in stroke outcome. This study describes a pilot genome-wide association study (GWAS) to identify genetic factors contributing to...
Variants in the 5-lipoxygenase-activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) genes have first been associated with ischemic stroke (IS) through whole-genome linkage screens. However, association studies obtained conflicting results. We aimed to investigate the contribution of selected single nucleotide polymorphisms (SNPs) in these genes for the first time in a large Iberian population.
Multiple lines of evidence suggest that genetic factors contribute to stroke recovery. The matrix metalloproteinases -2 (MMP-2) and -9 (MMP-9) are modulators of extracellular matrix components, with important regulatory functions in the Central Nervous System (CNS). Shortly after stroke, MMP-2 and MMP-9 have mainly damaging effects for brain tissue. However, MMPs also have a beneficial activity in angiogenesis ...
The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the c...
The aim of the present prospective work was to study the etiologic diagnosis and prognosis of the comatose patients for whom a neurologic examination is requested. It included 148 consecutive cases admitted to the emergency room of a general hospital. Coma was caused by supratentorial lesions in 38%, subtentorial lesions in 10%, diffuse or metabolic brain dysfunction in 49%, and psychiatric disorder in 1% of th...
Among 293 subarachnoid hemorrhages admitted to the Neurology and Neurosurgery departments of Sta Maria Hospital, 108 patients had a normal cerebral angiography. Twenty-three meet the radiological criteria for perimesencephalic hemorrhage (center of the hemorrhage located in front of the mesencephalon, without blood in the interhemispheric and lateral sylvian fissures, nor significant intraventricular hemorrhage...
The guidelines for secondary stroke prevention, graded following available scientific evidence, are presented. Stroke and TIA are defined and the indications for referral established. Basic assessment of stroke patients should include laboratory evaluation, ECG, brain CT, ultrasound examination of the extracranial vessels for events in the carotid distribution, and transthoracic or transesophageal echocardiogra...
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