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Genetic cerebral vessel disease

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https://www.readbyqxmd.com/read/29766811/p2x7-receptor-associated-programmed-cell-death-in-the-pathophysiology-of-hemorrhagic-stroke
#1
Hengli Zhao, Yujie Chen, Hua Feng
Hemorrhagic stroke is a life-threatening disease characterized by a sudden rupture of cerebral blood vessels, and cell death is widely believed to occur after exposure to blood metabolites or subsequently damaged cells. Recently, programmed cell death, such as apoptosis, autophagy, necroptosis, pyroptosis, and ferroptosis, has been demonstrated to play crucial roles in the pathophysiology of stroke. However, the detailed mechanisms of these novel kinds of cell death are still unclear. The P2X7 receptor, previously known for its cytotoxic activity, is an ATP-gated, non-selective cation channel that belongs to the family of ionotropic P2X receptors...
May 15, 2018: Current Neuropharmacology
https://www.readbyqxmd.com/read/29752348/genetic-study-of-white-matter-integrity-in-uk-biobank-n-8448-and-the-overlap-with-stroke-depression-and-dementia
#2
Loes C A Rutten-Jacobs, Daniel J Tozer, Marco Duering, Rainer Malik, Martin Dichgans, Hugh S Markus, Matthew Traylor
BACKGROUND AND PURPOSE: Structural integrity of the white matter is a marker of cerebral small vessel disease, which is the major cause of vascular dementia and a quarter of all strokes. Genetic studies provide a way to obtain novel insights in the disease mechanism underlying cerebral small vessel disease. The aim was to identify common variants associated with microstructural integrity of the white matter and to elucidate the relationships of white matter structural integrity with stroke, major depressive disorder, and Alzheimer disease...
May 11, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29725820/cadasil-brain-vessels-show-a-htra1-loss-of-function-profile
#3
Andreas Zellner, Eva Scharrer, Thomas Arzberger, Chio Oka, Valérie Domenga-Denier, Anne Joutel, Stefan F Lichtenthaler, Stephan A Müller, Martin Dichgans, Christof Haffner
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD ) and the formation of protein deposits of insufficiently determined composition in vessel walls...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29706439/recognition-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil-in-two-oligosymptomatic-sisters-with-low-cadasil-scale-scores-and-a-venous-dysplasia-report-of-a-novel-greek-family
#4
George P Paraskevas, Vasilios C Constantinides, Christos Yapijakis, Evangelia Kararizou, Elisabeth N Kapaki, Anastasia Bougea
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) due to mutations of the NOTCH3 gene is the most common cause of inherited cerebral small-vessel disease and one of the genetic causes of migraine with aura. The so-called CADASIL scale has been proposed as a clinical screening tool, and a score of 15 or higher seems useful in identifying patients with high probability of carrying NOTCH3 mutations. We studied a novel Greek family with clinical features compatible with CADASIL...
April 26, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29686024/causal-impact-of-type-2-diabetes-mellitus-on-cerebral-small-vessel-disease-a-mendelian-randomization-analysis
#5
Junfeng Liu, Loes Rutten-Jacobs, Ming Liu, Hugh S Markus, Matthew Traylor
BACKGROUND AND PURPOSE: The relationship between type 2 diabetes mellitus (T2D) and cerebral small vessel disease (CSVD) is unclear. We aimed to examine the causal effect of T2D, fasting glucose levels, and higher insulin resistance on CSVD using Mendelian randomization. METHODS: Five CSVD phenotypes were studied; 2 were clinical outcomes associated with CSVD (lacunar stroke: n=2191/27 297 and intracerebral hemorrhage [ICH]: n=2254/8195 [deep and lobar ICH]), whereas 3 were radiological markers of CSVD (white matter hyperintensities: n=8429; fractional anisotropy [FA]: n=8357; and mean diffusivity: n=8357)...
April 23, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29656244/human-organoid-cultures-transformative-new-tools-for-human-virus-studies
#6
REVIEW
Sasirekha Ramani, Sue E Crawford, Sarah E Blutt, Mary K Estes
Studies of human infectious diseases have been limited by the paucity of functional models that mimic normal human physiology and pathophysiology. Recent advances in the development of multicellular, physiologically active organotypic cultures produced from embryonic and pluripotent stem cells, as well as from stem cells isolated from biopsies and surgical specimens are allowing unprecedented new studies and discoveries about host-microbe interactions. Here, we summarize recent developments in the use of organoids for studying human viral pathogens, including intestinal infections with human rotavirus, norovirus, enteroviruses and adenoviruses (intestinal organoids and enteroids), neuronal infections with Zika virus (cerebral organoids) and respiratory infections with respiratory syncytial virus in (lung bud organoids)...
April 2018: Current Opinion in Virology
https://www.readbyqxmd.com/read/29562536/update-on-vascular-cognitive-impairment-associated-with-subcortical-small-vessel-disease
#7
Anders Wallin, Gustavo C Román, Margaret Esiri, Petronella Kettunen, Johan Svensson, George P Paraskevas, Elisabeth Kapaki
Subcortical small-vessel disease (SSVD) is a disorder well characterized from the clinical, imaging, and neuropathological viewpoints. SSVD is considered the most prevalent ischemic brain disorder, increasing in frequency with age. Vascular risk factors include hypertension, diabetes, hyperlipidemia, elevated homocysteine, and obstructive sleep apnea. Ischemic white matter lesions are the hallmark of SSVD; other pathological lesions include arteriolosclerosis, dilatation of perivascular spaces, venous collagenosis, cerebral amyloid angiopathy, microbleeds, microinfarcts, lacunes, and large infarcts...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29531174/changes-in-cerebral-arteries-and-parenchymal-arterioles-with-aging-role-of-rho-kinase-2-and-impact-of-genetic-background
#8
T Michael De Silva, Mary L Modrick, Fabrice Dabertrand, Frank M Faraci
Vascular aging fundamentally contributes to large and small vessel disease. Despite the importance of such changes for brain function, mechanisms that mediate such changes are poorly defined. We explored mechanisms that underlie changes with age, testing the hypothesis that ROCK (Rho kinase) plays an important role. In C57BL/6 mice, baseline diameters of isolated pressurized parenchymal arterioles were similar in adult (4-5 month) and old mice (22±1 month; ≈15±1 µm). Endothelium-dependent dilation was impaired in old mice compared with adults in a pathway-specific manner...
March 12, 2018: Hypertension
https://www.readbyqxmd.com/read/29521138/longitudinal-monitoring-of-mesoscopic-cortical-activity-in-a-mouse-model-of-microinfarcts-reveals-dissociations-with-behavioral-and-motor-function
#9
Matilde Balbi, Matthieu P Vanni, Max J Vega, Gergely Silasi, Yuki Sekino, Jamie D Boyd, Jeffrey M LeDue, Timothy H Murphy
Small vessel disease is characterized by sporadic obstruction of small vessels leading to neuronal cell death. These microinfarcts often escape detection by conventional magnetic resonance imaging and are identified only upon postmortem examination. Our work explores a brain-wide microinfarct model in awake head-fixed mice, where occlusions of small penetrating arterioles are reproduced by endovascular injection of fluorescent microspheres. Mesoscopic functional connectivity was mapped longitudinally in awake GCaMP6 mice using genetically encoded calcium indicators for transcranial wide-field calcium imaging...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29516454/-moyamoya-disease-clinical-neuroradiological-neuropsychological-and-genetic-perspective
#10
R Espert, M Gadea, M Alino, J Oltra-Cucarella, C Perpina
INTRODUCTION: Moyamoya disease (MMD) is an occlusive cerebrovascular disease characterized by progressive stenosis or occlusion in the terminal portion of the bilateral internal carotid arteries, affecting both children and adults. AIM: To conduct a review and update on MMD from a clinical, neuroradiological, neuropsychological and genetic perspective. DEVELOPMENT: In this pathology, which occurs with ischemia or cerebral hemorrhage, an unusual compensatory vascular network (moyamoya vessels) develops at the base of the brain in the form of collateral channels...
March 1, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29478611/cadasil
#11
Michael M Wang
Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3. The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29463847/small-vessel-vasculopathy-due-to-aberrant-autophagy-in-lamp-2-deficiency
#12
Huan T Nguyen, Satoru Noguchi, Kazuma Sugie, Yoshiyuki Matsuo, Chuyen T H Nguyen, Hitoshi Koito, Ichiro Shiojima, Ichizo Nishino, Hiroyasu Tsukaguchi
Lysosomal associated membrane protein 2 (LAMP2) is physiologically implicated in autophagy. A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. In addition, arteriopathy may manifest on rare occasions but the pathological basis remains unknown. We encountered two Danon families that developed small-vessel vasculopathy in the coronary or cerebral arteries. To investigate the underlying mechanisms, we characterized the biological features of LAMP-2-deficient mice and cultured cells...
February 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29428736/whole-genome-sequencing-identifies-novel-notch3-mutations-for-leukoaraiosis
#13
Wen-Lei Shi, Yong-Biao Zhang, Wei Wei, Hong-Yan Gao, Yong-Hua Huang
BACKGROUND: Leukoaraiosis, a subtype of cerebral small vessel disease, is a common condition found on CT or MRI in elderly people. Leukoaraiosis is strongly associated with cognitive impairment, mental abnormality, gait disorders and urinary dysfunction. However, the genetic risk of leukoaraiosis is largely unknown. OBJECTIVE: The goal of this study is to identify the loss-of-function mutations for leukoaraiosis in Chinese. METHODS: We performed whole-genome sequencing on 11 leukoaraiosis patients and further validated the candidate mutations and tags of the candidate genes in 304 individuals including 160 patients and 144 healthy controls using Sequenom MassARRAY platform...
February 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29406155/free-water-determines-diffusion-alterations-and-clinical-status-in-cerebral-small-vessel-disease
#14
Marco Duering, Sofia Finsterwalder, Ebru Baykara, Anil Man Tuladhar, Benno Gesierich, Marek J Konieczny, Rainer Malik, Nicolai Franzmeier, Michael Ewers, Eric Jouvent, Geert Jan Biessels, Reinhold Schmidt, Frank-Erik de Leeuw, Ofer Pasternak, Martin Dichgans
INTRODUCTION: Diffusion tensor imaging detects early tissue alterations in Alzheimer's disease and cerebral small vessel disease (SVD). However, the origin of diffusion alterations in SVD is largely unknown. METHODS: To gain further insight, we applied free water (FW) imaging to patients with genetically defined SVD (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [CADASIL], n = 57), sporadic SVD (n = 444), and healthy controls (n = 28)...
February 16, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29379315/the-rs4846049-polymorphism-in-the-3-utr-region-of-the-mthfr-gene-increases-the-migraine-susceptibility-in-an-iranian-population
#15
Mohaddeseh Salehi, Mona Amin-Beidokhti, Behnam Safarpour Lima, Milad Gholami, Gholam-Reza Javadi, Reza Mirfakhraie
Introduction: Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives: We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population...
2018: Journal of Pain Research
https://www.readbyqxmd.com/read/29331631/the-edinburgh-ct-and-genetic-diagnostic-criteria-for-lobar-intracerebral-haemorrhage-associated-with-cerebral-amyloid-angiopathy-model-development-and-diagnostic-test-accuracy-study
#16
Mark A Rodrigues, Neshika Samarasekera, Christine Lerpiniere, Catherine Humphreys, Mark O McCarron, Philip M White, James A R Nicoll, Cathie L M Sudlow, Charlotte Cordonnier, Joanna M Wardlaw, Colin Smith, Rustam Al-Shahi Salman
BACKGROUND: Identification of lobar spontaneous intracerebral haemorrhage associated with cerebral amyloid angiopathy (CAA) is important because it is associated with a higher risk of recurrent intracerebral haemorrhage than arteriolosclerosis-associated intracerebral haemorrhage. We aimed to develop a prediction model for the identification of CAA-associated lobar intracerebral haemorrhage using CT features and genotype. METHODS: We identified adults with first-ever intracerebral haemorrhage diagnosed by CT, who died and underwent research autopsy as part of the Lothian IntraCerebral Haemorrhage, Pathology, Imaging and Neurological Outcome (LINCHPIN) study, a prospective, population-based, inception cohort...
March 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29311265/burden-of-dilated-perivascular-spaces-an-emerging-marker-of-cerebral-small-vessel-disease-is-highly-heritable
#17
Marie-Gabrielle Duperron, Christophe Tzourio, Muralidharan Sargurupremraj, Bernard Mazoyer, Aïcha Soumaré, Sabrina Schilling, Philippe Amouyel, Ganesh Chauhan, Yi-Cheng Zhu, Stéphanie Debette
BACKGROUND AND PURPOSE: The genetic contribution to dilated perivascular space (dPVS) burden-an emerging MRI marker of cerebral small vessel disease-is unknown. We measured the heritability of dPVS burden and its shared heritability with other MRI markers of cerebral small vessel disease. METHODS: The study sample comprised 1597 participants from the population-based Three City (3C) Dijon Study, with brain MRI and genome-wide genotyping (mean age, 72.8±4.1 years; 61% women)...
February 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29273593/novel-susceptibility-loci-for-moyamoya-disease-revealed-by-a-genome-wide-association-study
#18
MULTICENTER STUDY
Lian Duan, Ling Wei, Yanghua Tian, Zhengshan Zhang, Panpan Hu, Qiang Wei, Sugang Liu, Jun Zhang, Yuyang Wang, Desheng Li, Weizhong Yang, Rui Zong, Peng Xian, Cong Han, Xiangyang Bao, Feng Zhao, Jie Feng, Wei Liu, Wuchun Cao, Guoping Zhou, Chunyan Zhu, Fengqiong Yu, Weimin Yang, Yu Meng, Jingye Wang, Xianwen Chen, Yu Wang, Bing Shen, Bing Zhao, Jinghai Wan, Fengyu Zhang, Gang Zhao, Aimin Xu, Xuejun Zhang, Jianjun Liu, Xianbo Zuo, Kai Wang
BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by bilateral internal carotid artery stenosis and often leads to stroke in children or young adults. Although familial inheritance is well recognized, the genetic basis of MMD remains poorly understood. METHODS: A 2-stage genome-wide association study was conducted involving 1492 cases and 5084 controls. In the discovery stage, logistic regression was used to test associations, and imputation was conducted based on genotyped single-nucleotide polymorphisms (SNPs)...
January 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29247493/the-yin-and-yang-of-k-v-channels-in-cerebral-small-vessel-pathologies
#19
REVIEW
Masayo Koide, Arash Moshkforoush, Nikolaos M Tsoukias, David C Hill-Eubanks, George C Wellman, Mark T Nelson, Fabrice Dabertrand
Cerebral SVDs encompass a group of genetic and sporadic pathological processes leading to brain lesions, cognitive decline, and stroke. There is no specific treatment for SVDs, which progress silently for years before becoming clinically symptomatic. Here, we examine parallels in the functional defects of PAs in CADASIL, a monogenic form of SVD, and in response to SAH, a common type of hemorrhagic stroke that also targets the brain microvasculature. Both animal models exhibit dysregulation of the voltage-gated potassium channel, KV 1, in arteriolar myocytes, an impairment that compromises responses to vasoactive stimuli and impacts CBF autoregulation and local dilatory responses to neuronal activity (NVC)...
January 2018: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
https://www.readbyqxmd.com/read/29156222/cerebral-small-vessel-disease-in-middle-age-and-genetic-predisposition-to-late-onset-alzheimer-s-disease
#20
James D Stefaniak, Li Su, Elijah Mak, Nasim Sheikh-Bahaei, Katie Wells, Karen Ritchie, Adam Waldman, Craig W Ritchie, John T O'Brien
INTRODUCTION: Cerebral small vessel disease (CSVD) is associated with late-onset Alzheimer's disease (LOAD) and might contribute to the relationship between apolipoprotein E ε4 (APOE ε4) and LOAD, in older people. However, it is unclear whether CSVD begins in middle age in individuals genetically predisposed to LOAD. METHODS: We assessed the relationship between radiological markers of CSVD, white matter hyperintensities and microbleeds, and genetic predisposition to LOAD in a cross-sectional analysis of cognitively normal subjects aged 40-59 years recruited from the PREVENT Dementia study...
February 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
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