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Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).

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Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer's disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. The mean age at

Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese.

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Hyperhomocyst(e)inemia has been identified as an independent risk factor for atherosclerotic and thromboembolic diseases such as coronary artery disease, cerebral artery disease, and venous thrombosis. Recently, the alanine/valine (A/V) gene polymorphism of 5,10-methylenetetrahydrofolate reductase

[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency].

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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

Pharmacological profile of valsartan, a non-peptide angiotensin II type 1 receptor antagonist. 2nd communication: valsartan prevents end-organ damage in spontaneously hypertensive stroke-prone rats during 1-year treatment.

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Valsartan ((S)-N-valeryl-N-¿[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl¿ valine, CAS 137862-53-4, CGP 48933), a non-peptide angiotensin II type 1 receptor antagonist, or enalapril was administered to spontaneously hypertensive rats stroke-prone (SHR-SP) for 1 year from 8 weeks to 56 weeks of age

The gene encoding atrial natriuretic peptide and the risk of human stroke.

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BACKGROUND Recent evidence from an animal model of stroke, the stroke-prone spontaneously hypertensive rat, implicated the gene encoding atrial natriuretic peptide (ANP) as a possible candidate contributing to the likelihood of experiencing a stroke. The purpose of the present study was to

Activation of the kynurenine pathway in the acute phase of stroke and its role in fatigue and depression following stroke.

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Many stroke survivors suffer from poststroke fatigue (PSF) and poststroke depression (PSD), indicating the importance of increasing the base of knowledge about the mechanisms underlying these sequelae. The primary aim of this study was to determine whether activation of the kynurenine (KYN) pathway

Metabolite profiling identifies a branched chain amino acid signature in acute cardioembolic stroke.

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OBJECTIVE There is limited information about changes in metabolism during acute ischemic stroke. The identification of changes in circulating plasma metabolites during cerebral infarction may provide insight into disease pathogenesis and identify novel biomarkers. METHODS We performed filament

The role of brain-derived neurotrophic factor and its single nucleotide polymorphisms in stroke patients.

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Stroke is the main cause of motoric and neuropsychological disability in adults. Recent advances in research into the role of the brain-derived neurotrophic factor in neuroplasticity, neuroprotection and neurogenesis might provide important information for the development of new

A metabolomic study on high-risk stroke patients determines low levels of serum lysine metabolites: a retrospective cohort study.

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Identifying changes in serum metabolites during cerebral ischemia is an important approach for early diagnosis of thrombotic stroke. Herein, we highlight novel biomarkers for early diagnosis of patients at high risk of thrombotic stroke using high resolution metabolomics (HRM). In this retrospective

Metabolomics facilitates the discovery of metabolic biomarkers and pathways for ischemic stroke: a systematic review.

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Ischemic stroke (IS) is a major contributor to the global disease burden, and effective biomarkers for IS management in clinical practice are urgently needed. Metabolomics can detect metabolites that are small enough to cross the blood-brain barrier in a high-throughput manner, and

Differential Relationship between Microstructural Integrity in White Matter Tracts and Motor Recovery following Stroke Based on Brain-Derived Neurotrophic Factor Genotype

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Objective: The relationship between white matter integrity and the brain-derived neurotrophic factor (BDNF) genotype and its effects on motor recovery after stroke are poorly understood. We investigated the values of fractional

[Polymorphism of brain derived neurotrophic factor and recovery of functions after ischemic stroke].

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BACKGROUND After ischemic stroke, many factors influence the restitution of functions. In particular they include the patient age, the initial stroke severity and the presence of cognitive and neuropsychological deficits. In this study we investigated whether a polymorphism in the gene encoding for

Genetic variant of BDNF (Val66Met) polymorphism attenuates stroke-induced angiogenic responses by enhancing anti-angiogenic mediator CD36 expression.

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Brain-derived neurotrophic factor (BDNF) has been shown to be necessary and sufficient for post-stroke recovery in rodents. From these observations, we and others have hypothesized that a common single nucleotide polymorphism (SNP) in the pro-domain of bdnf that leads to a methionine (Met)

Hematopoietic stem cell transplantation for sickle cell disease: state of the science.

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Sickle cell disease (SCD) is an inherited disorder secondary to a point mutation at the sixth position of the beta chain of human hemoglobin resulting in the replacement of valine for glutamic acid. This recessive genetic abnormality precipitates the polymerization of the deoxygenated form of

Mitochondrial permeability transition in acute neurodegeneration.

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Acute neurodegeneration in man is encountered during and following stroke, transient cardiac arrest, brain trauma, insulin-induced hypoglycemia and status epilepticus. All these severe clinical conditions are characterized by neuronal calcium overload, aberrant cell signaling, generation of free

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