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Genetic cerebral vessel disease

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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
#1
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...
January 10, 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
#2
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)...
January 8, 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
#3
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-kv-channels-in-cerebral-small-vessel-pathologies
#4
Masayo Koide, Arash Moshkforoush, Nikolaos M Tsoukias, David C Hill-Eubanks, George C Wellman, Mark T Nelson, Fabrice Dabertrand
Cerebral small vessel diseases (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 parenchymal arterioles in CADASIL, a monogenic form of SVD, and in response to subarachnoid hemorrhage, a common type of hemorrhagic stroke that also targets the brain microvasculature...
December 15, 2017: 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
#5
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 (APOEε4) 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...
November 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29126445/ykl-40-in-the-brain-and-cerebrospinal-fluid-of-neurodegenerative-dementias
#6
Franc Llorens, Katrin Thüne, Waqas Tahir, Eirini Kanata, Daniela Diaz-Lucena, Konstantinos Xanthopoulos, Eleni Kovatsi, Catharina Pleschka, Paula Garcia-Esparcia, Matthias Schmitz, Duru Ozbay, Susana Correia, Ângela Correia, Ira Milosevic, Olivier Andréoletti, Natalia Fernández-Borges, Ina M Vorberg, Markus Glatzel, Theodoros Sklaviadis, Juan Maria Torres, Susanne Krasemann, Raquel Sánchez-Valle, Isidro Ferrer, Inga Zerr
BACKGROUND: YKL-40 (also known as Chitinase 3-like 1) is a glycoprotein produced by inflammatory, cancer and stem cells. Its physiological role is not completely understood but YKL-40 is elevated in the brain and cerebrospinal fluid (CSF) in several neurological and neurodegenerative diseases associated with inflammatory processes. Yet the precise characterization of YKL-40 in dementia cases is missing. METHODS: In the present study, we comparatively analysed YKL-40 levels in the brain and CSF samples from neurodegenerative dementias of different aetiologies characterized by the presence of cortical pathology and disease-specific neuroinflammatory signatures...
November 10, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29104648/identification-of-key-signaling-pathways-in-cerebral-small-vessel-disease-using-differential-pathway-network-analysis
#7
Gang Zheng, Qianlei Zheng, Qianwei Xu
Cerebral small vessel disease (CSVD) primarily affects the perforating cerebral arterioles and capillaries, and results in injury to subcortical grey and white matter. Despite advances in determining the genetic basis of CSVD, the molecular mechanisms underlying the development and progression of CSVD remain unclear. The present study aimed to identify significant signaling pathways associated with CSVD based on differential pathway network analysis. Combining CSVD microarray data with human protein-protein interaction data and data from the Reactome pathway database, pathway interactions were constructed using the Spearman's correlation coefficient strategy...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29101611/pre-existing-small-vessel-disease-in-patients-with-acute-stroke-from-the-middle-east-southeast-asia-and-philippines
#8
Naveed Akhtar, Abdul Salam, Saadat Kamran, Atlantic D'Souza, Yahia Imam, Ahmed Own, Ahmed ElSotouhy, Surjith Vattoth, Paula Bourke, Zain Bhutta, Sujatha Joseph, Mark Santos, Rabia Ali Khan, Ashfaq Shuaib
Asymptomatic small vessel disease (SVD), including white matter hyperintensities (WMHIs), periventricular hyperintensities (PVHIs), silent stroke (SS), and cerebral microbleeds (CMBs), increases the risk of stroke. There are limited studies of SVD in subjects from the Middle East and Southeast Asia (SA). All patients admitted to stroke service between 2014 and 2015 were reviewed for presence of "pre-existing" SVD. Stroke mimics with no previous history of stroke were used as controls. There were 1727 patients admitted with stroke...
November 3, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/29046152/cerebral-small-vessel-disease-is-associated-with-genetic-variations-in-cyp2j
#9
Ming Yao, Daping Lv, Jiajia Huo, Zhongwu Sun
BACKGROUND: Cerebral small vessel disease (SVD) can cause cognitive impairment, disability, and dementia. While it's still unclear about the pathogenesis of SVD, several risk factors of SVD have been identified, and studies suggested that hypertension may play a critical role in SVD. Furthermore, studies have demonstrated that CYP2J2 isoform, 50 G>T variant, is associated with increase the risk of ischemic stroke. Thus, we hypothesized that CYP2J2 50 G>T variant is associated with increased risk of cerebral SVD...
October 17, 2017: Current Neurovascular Research
https://www.readbyqxmd.com/read/29037261/distinct-deposition-of-amyloid-%C3%AE-species-in-brains-with-alzheimer-s-disease-pathology-visualized-with-maldi-imaging-mass-spectrometry
#10
Nobuto Kakuda, Tomohiro Miyasaka, Noriyuki Iwasaki, Takashi Nirasawa, Satoko Wada-Kakuda, Junko Takahashi-Fujigasaki, Shigeo Murayama, Yasuo Ihara, Masaya Ikegawa
Amyloid β (Aβ) deposition in the brain is an early and invariable feature of Alzheimer's disease (AD). The Aβ peptides are composed of about 40 amino acids and are generated from amyloid precursor proteins (APP), by β- and γ-secretases. The distribution of individual Aβ peptides in the brains of aged people, and those suffering from AD and cerebral amyloid angiopathy (CAA), is not fully characterized. We employed the matrix-assisted laser desorption/ionization-imaging mass spectrometry (MALDI-IMS) to illustrate the spatial distribution of a broad range of Aβ species in human autopsied brains...
October 16, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29026001/understanding-a-role-for-hypoxia-in-lesion-formation-and-location-in-the-deep-and-periventricular-white-matter-in-small-vessel-disease-and-multiple-sclerosis
#11
REVIEW
Santiago Martinez Sosa, Kenneth J Smith
The deep and periventricular white matter is preferentially affected in several neurological disorders, including cerebral small vessel disease (SVD) and multiple sclerosis (MS), suggesting that common pathogenic mechanisms may be involved in this injury. Here we consider the potential pathogenic role of tissue hypoxia in lesion development, arising partly from the vascular anatomy of the affected white matter. Specifically, these regions are supplied by a sparse vasculature fed by long, narrow end arteries/arterioles that are vulnerable to oxygen desaturation if perfusion is reduced (as in SVD, MS and diabetes) or if the surrounding tissue is hypoxic (as in MS, at least)...
October 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28991717/new-diagnostic-criteria-for-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukocencephalopathy-in-japan
#12
Ikuko Mizuta, Akiko Watanabe-Hosomi, Takashi Koizumi, Mao Mukai, Ai Hamano, Yasuhiro Tomii, Masaki Kondo, Masanori Nakagawa, Hidekazu Tomimoto, Teruyuki Hirano, Makoto Uchino, Osamu Onodera, Toshiki Mizuno
PURPOSE: Definite diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy (CADASIL) is mostly done by identification of NOTCH3 mutations. We aimed to develop criteria for selecting patients suspected for CADASIL to undergo genetic testing. SUBJECTS AND METHODS: All subjects were Japanese. We recruited CADASIL patients genetically diagnosed up until 2011 (n=37, Group 1) or after 2011 (n=65, Group 2), 67 young stroke patients (≤55 years old), and 53 NOTCH3-negative CADASIL-like patients...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28974452/long-term-optical-imaging-of-neurovascular-coupling-in-mouse-cortex-using-gcamp6f-and-intrinsic-hemodynamic-signals
#13
Xiaochun Gu, Wei Chen, Jiang You, Alan P Koretsky, N D Volkow, Yingtian Pan, Congwu Du
Cerebral hemodynamics are modulated in response to changes in neuronal activity, a process termed neurovascular coupling (NVC), which can be disrupted by neuropsychiatric diseases (e.g., stroke, Alzheimer's disease). Thus, there is growing interest to image long-term NVC dynamics with high spatiotemporal resolutions. Here, by combining the use of a genetically-encoded calcium indicator with optical techniques, we develop a longitudinal multimodal optical imaging platform (MIP) that enabled time-lapse tracking of NVC over a relatively large field of view in the mouse somatosensory cortex at single cell and single vessel resolutions...
September 30, 2017: NeuroImage
https://www.readbyqxmd.com/read/28969386/genetic-variants-influencing-elevated-myeloperoxidase-levels-increase-risk-of-stroke
#14
Chia-Ling Phuah, Tushar Dave, Rainer Malik, Miriam R Raffeld, Alison M Ayres, Joshua N Goldstein, Anand Viswanathan, Steven M Greenberg, Jeremiasz M Jagiella, Björn M Hansen, Bo Norrving, Jordi Jimenez-Conde, Jaume Roquer, Alexander Pichler, Christian Enzinger, Joan Montaner, Israel Fernandez-Cadenas, Arne Lindgren, Agnieszka Slowik, Reinhold Schmidt, Alessandro Biffi, Natalia Rost, Carl D Langefeld, Hugh S Markus, Braxton D Mitchell, Brad B Worrall, Steven J Kittner, Daniel Woo, Martin Dichgans, Jonathan Rosand, Christopher D Anderson
Primary intracerebral haemorrhage and lacunar ischaemic stroke are acute manifestations of progressive cerebral microvascular disease. Current paradigms suggest atherosclerosis is a chronic, dynamic, inflammatory condition precipitated in response to endothelial injury from various environmental challenges. Myeloperoxidase plays a central role in initiation and progression of vascular inflammation, but prior studies linking myeloperoxidase with stroke risk have been inconclusive. We hypothesized that genetic determinants of myeloperoxidase levels influence the development of vascular instability, leading to increased primary intracerebral haemorrhage and lacunar stroke risk...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28954878/col4a2-is-associated-with-lacunar-ischemic-stroke-and-deep-ich-meta-analyses-among-21-500-cases-and-40-600-controls
#15
Kristiina Rannikmäe, Vhinoth Sivakumaran, Henry Millar, Rainer Malik, Christopher D Anderson, Mike Chong, Tushar Dave, Guido J Falcone, Israel Fernandez-Cadenas, Jordi Jimenez-Conde, Arne Lindgren, Joan Montaner, Martin O'Donnell, Guillaume Paré, Farid Radmanesh, Natalia S Rost, Agnieszka Slowik, Martin Söderholm, Matthew Traylor, Sara L Pulit, Sudha Seshadri, Brad B Worrall, Daniel Woo, Hugh S Markus, Braxton D Mitchell, Martin Dichgans, Jonathan Rosand, Cathie L M Sudlow
OBJECTIVE: To determine whether common variants in familial cerebral small vessel disease (SVD) genes confer risk of sporadic cerebral SVD. METHODS: We meta-analyzed genotype data from individuals of European ancestry to determine associations of common single nucleotide polymorphisms (SNPs) in 6 familial cerebral SVD genes (COL4A1, COL4A2, NOTCH3, HTRA1, TREX1, and CECR1) with intracerebral hemorrhage (ICH) (deep, lobar, all; 1,878 cases, 2,830 controls) and ischemic stroke (IS) (lacunar, cardioembolic, large vessel disease, all; 19,569 cases, 37,853 controls)...
October 24, 2017: Neurology
https://www.readbyqxmd.com/read/28782182/heterozygous-mutations-of-htra1-gene-in-patients-with-familial-cerebral-small-vessel-disease
#16
Ilaria Di Donato, Silvia Bianchi, Gian Nicola Gallus, Alfonso Cerase, Ilaria Taglia, Francesca Pescini, Serena Nannucci, Carla Battisti, Domenico Inzitari, Leonardo Pantoni, Andrea Zini, Antonio Federico, Maria Teresa Dotti
AIMS: Cerebral small vessel disease (SVD) is the leading cause of vascular dementia. Although the most of cases are sporadic, familial monogenic causes have been identified in a growing minority of patients. CADASIL, due to mutations of NOTCH3 gene, is the most common genetic SVD, and CARASIL, linked to HTRA1 gene mutations, is a rare but well known autosomal recessive SVD. Recently, also heterozygous HTRA1 mutations have been described in patients with familial SVD. To detect a genetic cause of familial SVD, we performed mutational analysis of HTRA1 gene in a large cohort of Italian NOTCH3-negative patients...
September 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28761511/genetic-associations-of-intracranial-aneurysm-formation-and-sub-arachnoid-hemorrhage
#17
REVIEW
Christian B Theodotou, Brian M Snelling, Samir Sur, Diogo C Haussen, Eric C Peterson, Mohamed Samy Elhammady
Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28715552/large-perivascular-spaces-visible-on-magnetic-resonance-imaging-cerebral-small-vessel-disease-progression-and-risk-of-dementia-the-age-gene-environment-susceptibility-reykjavik-study
#18
Jie Ding, Sigurður Sigurðsson, Pálmi V Jónsson, Gudny Eiriksdottir, Andreas Charidimou, Oscar L Lopez, Mark A van Buchem, Vilmundur Guðnason, Lenore J Launer
Importance: With advancing age, an increased visibility of perivascular spaces (PVSs) on magnetic resonance imaging (MRI) is hypothesized to represent impaired drainage of interstitial fluid from the brain and may reflect underlying cerebral small vessel disease (SVD). However, whether large perivascular spaces (L-PVSs) (>3 mm in diameter) visible on MRI are associated with SVD and cognitive deterioration in older individuals is unknown. Objective: To examine whether L-PVSs are associated with the progression of the established MRI markers of SVD, cognitive decline, and increased risk of dementia...
September 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28701379/loss-of-clusterin-shifts-amyloid-deposition-to-the-cerebrovasculature-via-disruption-of-perivascular-drainage-pathways
#19
Aleksandra M Wojtas, Silvia S Kang, Benjamin M Olley, Maureen Gatherer, Mitsuru Shinohara, Patricia A Lozano, Chia-Chen Liu, Aishe Kurti, Kelsey E Baker, Dennis W Dickson, Mei Yue, Leonard Petrucelli, Guojun Bu, Roxana O Carare, John D Fryer
Alzheimer's disease (AD) is characterized by amyloid-β (Aβ) peptide deposition in brain parenchyma as plaques and in cerebral blood vessels as cerebral amyloid angiopathy (CAA). CAA deposition leads to several clinical complications, including intracerebral hemorrhage. The underlying molecular mechanisms that regulate plaque and CAA deposition in the vast majority of sporadic AD patients remain unclear. The clusterin (CLU) gene is genetically associated with AD and CLU has been shown to alter aggregation, toxicity, and blood-brain barrier transport of Aβ, suggesting it might play a key role in regulating the balance between Aβ deposition and clearance in both brain and blood vessels...
August 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28698285/therapeutic-antibody-targeting-of-notch3-signaling-prevents-mural-cell-loss-in-cadasil
#20
Arturo I Machuca-Parra, Alexander A Bigger-Allen, Angie V Sanchez, Anissa Boutabla, Jonathan Cardona-Vélez, Dhanesh Amarnani, Magali Saint-Geniez, Christian W Siebel, Leo A Kim, Patricia A D'Amore, Joseph F Arboleda-Velasquez
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by small vessel disease (SVD), stroke, and vascular cognitive impairment and dementia caused by mutations in NOTCH3 No therapies are available for this condition. Loss of mural cells, which encompass pericytes and vascular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy, resulting in vascular instability. Here, we showed that Notch3 signaling is both necessary and sufficient to support mural cell coverage in arteries using genetic rescue in Notch3 knockout mice...
August 7, 2017: Journal of Experimental Medicine
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