Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038454 (stroke)
147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Assessing the risk of stroke in persons with migraine is complicated by the intricate relationship between these two conditions. Both migraine and stroke are common and co-morbidity may, in some cases, be coincidental. Given the overlap of clinical symptoms in stroke and migraine, each condition may also mimic the other. Numerous studies have, however, shown that migraine is an independent risk factor for stroke both during, and remote from, the migraine attack. Women of childbearing age and those with aura are at greatest risk of migraine-related stroke. Additional risk of stroke in migraineurs occurs in those using oral contraceptive pills and who smoke cigarettes. Elevated blood pressure, an important stroke risk factor, is less common in migraineurs. Acquired antiphospholipid antibodies, not clearly a cause of migraine per se, may raise the risk of infarction in migraineurs. Hereditary conditions, including CADASIL (cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy), MELAS (mitochondrial myopathy, encephalopathy, lactacidosis and stroke) and hereditary haemorrhagic telangiectasia, appear to predispose to both migraine and stroke. Purported mechanisms for migraine-associated stroke include involvement of the vasculature (including vasospasm, arterial dissection and small vessel arteriopathy), hypercoagulability (elevated von Willebrand Factor, platelet activation) and elevated risk of cardioembolism (patent foramen ovale, atrial septal aneurysm). Triptans and ergotamines, used to treat acute migraine attacks, appear to be safe in low-risk populations. These medications should be avoided in persons with haemiplegic migraine, basilar migraine, vascular risk factor and prior cerebral or cardiac ischaemia.
...
PMID:The risk of stroke in patients with migraine and implications for migraine management. 1609 50

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.
...
PMID:CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations. 1611 3

Interactions between endothelial cells and mural cells (pericytes and vascular smooth muscle cells) in the blood vessel wall have recently come into focus as central processes in the regulation of vascular formation, stabilization, remodeling, and function. Failure of the interactions between the 2 cell types, as seen in numerous genetic mouse models, results in severe and often lethal cardiovascular defects. Abnormal interactions between the 2 cell types are also implicated in a number of human pathological conditions, including tumor angiogenesis, diabetic microangiopathy, ectopic tissue calcification, and stroke and dementia syndrome CADASIL. In the present review, we summarize current knowledge concerning the identity, characteristics, diversity, ontogeny, and plasticity of pericytes. We focus on the advancement in recent years of the understanding of intercellular communication between endothelial and mural cells with a focus on transforming growth factor beta, angiopoietins, platelet-derived growth factor, spingosine-1-phosphate, and Notch ligands and their respective receptors. We finally highlight recent important data contributing to the understanding of the role of pericytes in tumor angiogenesis, diabetic retinopathy, and hereditary lymphedema.
...
PMID:Endothelial/pericyte interactions. 1616 62

Monogenic disorders account for only a minority of strokes. Yet, they have been particularly helpful in exploring basic disease mechanisms. This article summarizes some recent data on monogenic stroke while focusing on two conditions: CADASIL, as a genetic variant of ischemic small vessel disease, and familial forms of cerebral amyloid angiopathy, which share many properties with sporadic disease.
...
PMID:Monogenic causes of stroke. 1619 Dec 12

It is still a challenge to identify typical features of cognitive function in vascular dementia (VaD) in clinical as well as in preclinical stages. Selective empirical findings are described to illuminate degrees of cognitive decline. In predementia stages, speeded performance (motor and mental) and executive functions may be affected as demonstrated by CADASIL subjects and stroke survivors. In dementia stages, motor and mental speed as well as executive functions is commonly affected in addition to typical cognitive dysfunction in dementia (memory, verbal, and visuospatial). To summarize characteristics during preclinical and clinical stages, VaD appears to be associated with impairment in motor and mental speed as well as in executive function.
...
PMID:Cognitive syndrome(s) in preclinical and clinical vascular dementia. 1619 Dec 29

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option.
...
PMID:The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis. 1630 68

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders, or dementia, are also frequently found in these patients. Missense mutations in the Notch3 gene that create or destroy cysteine residues, have been found in most cases with a family history of the disease, although a few sporadic cases harbouring Notch3 mutations have also been described. Here, we describe a 44-year-old patient with clinical features of CADASIL who was a carrier of a new Notch3 mutation: cys128-->gly. Both parents were alive and healthy, and negative for the mutation. This case illustrates the interest of analysing the Notch3 gene in cases with clinical features of CADASIL, even in the absence of a family history of the disease.
...
PMID:A new de novo Notch3 mutation causing CADASIL. 1679 87

Stroke can be viewed as a paradigm for late-onset, complex polygenic diseases. There are two main clinical phenotypes for stroke: ischemic stroke, responsible for 80-90% of stroke events, and hemorrhagic stroke, responsible for the remaining 10-20%. Stroke may either be the outcome of a number of monogenic disorders or, more commonly, a polygenic multifactorial disease. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), due to mutations in the Notch 3 gene, is the best example of monogenic pathology leading to stroke. The identification of individual causative mutations for polygenic stroke is problematic due to the complexity of such condition. The two main methods of genetic investigation are linkage analyses and association studies, each with advantages and limitations. Associations with polymorphisms in a variety of candidate genes have been investigated, including hemostatic genes, genes controlling homocystein metabolism, the angiotensin-converting enzyme gene, and the endothelial nitric oxide synthase gene. The combination of linkage and association approaches has led to the identification of the first putative gene associated with common polygenic stroke, PDE4D, mapped to chromosome 5q21. The biological revolution of the past years, spurred by the Human Genome Project, promises the advent of novel technologies supported by bioinformatics, which will transform the study of polygenic disorders such as stroke. Understanding the causes of stroke and its effect will allow definition of high-risk populations and make possible specific programs of primary and secondary prevention as well as new therapeutic approaches where prevention has failed.
...
PMID:Research actuality in the genetics of stroke. 1683 24

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in -33% of patients. CADASIL is commonly overlooked or misdiagnosed owing to its recent identification. The pathological hallmark of angiopathy is the presence of multiple, small, deep cerebral infarcts, leucoencephalopathy, and nonatherorosclerotic, nonamyloid angiopathy involving mainly small, deep perforating cerebral arteries. Changes also are present in vascular smooth muscle cells and consist in the presence of granular osmiophilic material (GOM). The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor. Magnetic resonance imaging shows high intensity signal lesions, often confluent, and areas of cystic degeneration of subcortical white matter and basal ganglia. Diagnostic strategies in CADASIL are matter of discussions because the electron microscopic demonstration of GOM was reported in 100% of symptomatic patients of French authors, but only in 45% of a British study. GOMs are not present in presymptomatic patients.
...
PMID:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 1683 34

Cardiovascular risk factors are present in 85% of patients with stroke. However, up to 6%-15% of patients have a stroke secondary to unusual reasons such as systemic diseases, coagulation disorders, etc., and, in some cases, no reason can be identified even after performing an extensive study. This usually happens in young people. In this regard, the diagnostic screening must consider hereditary causes of stroke. CADASIL, an autosomal dominant brain white matter angiopathy, is emerging as a not uncommon cause of stroke with diverse clinical manifestations. Its clinical diagnosis is controversial because of the diverse role of the brain imaging study, the biopsy of the vessels of skin or other tissues and the DNA study.
...
PMID:[Clinical variability and diagnostic controversies in CADASIL]. 1747 82


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>