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Genetic cerebral vessel disease

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https://www.readbyqxmd.com/read/28497183/rapid-contralateral-progression-of-focal-cerebral-arteriopathy-distinguished-from-rnf213-related-moyamoya-disease-and-fibromuscular-dysplasia
#1
Yoshio Araki, Yasushi Takagi, Yohei Mineharu, Hatasu Kobayashi, Susumu Miyamoto, Toshihiko Wakabayashi
BACKGROUND: Focal cerebral arteriopathy includes unifocal or multifocal lesions that are unilateral or bilateral. Large- and/or medium-sized vessels are involved and can be visualized on angiography. CASE REPORT: We report a case of cerebral infarction in a 9-year-old Japanese female who presented with a transient ischemic attack. Steno-occlusion involving the distal part of the internal carotid artery, proximal middle cerebral artery, and anterior cerebral artery was observed...
May 11, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28492093/higher-prevalence-of-cerebral-white-matter-hyperintensities-in-homozygous-apoe-%C3%A9-4-allele-carriers-aged-45-75-results-from-the-alfa-study
#2
Santiago Rojas, Anna Brugulat-Serrat, Nuria Bargalló, Carolina Minguillón, Alan Tucholka, Carles Falcon, Andreia Carvalho, Sebastian Morán, Manel Esteller, Nina Gramunt, Karine Fauria, Jordi Camí, José L Molinuevo, Juan D Gispert
Cerebral white matter hyperintensities are believed the consequence of small vessel disease and are associated with risk and progression of Alzheimer's disease. The ɛ4 allele of the APOE gene is the major factor accountable for Alzheimer's disease heritability. However, the relationship between white matter hyperintensities and APOE genotype in healthy subjects remains controversial. We investigated the association between APOE-ɛ4 and vascular risk factors with white matter hyperintensities, and explored their interactions, in a cohort of cognitively healthy adults (45-75 years)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28469098/study-of-enhanced-depth-imaging-optical-coherence-tomography-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#3
Xiao-Jing Fang, Meng Yu, Yuan Wu, Zi-Hao Zhang, Wei-Wei Wang, Zhao-Xia Wang, Yun Yuan
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography (EDI-OCT) to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging (MRI) findings. METHODS: Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First Hospital from January 2015 to August 2016...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28428977/19th-workshop-of-the-international-stroke-genetics-consortium-april-28-29-2016-boston-massachusetts-usa-2016-001-mri-defined-cerebrovascular-genomics-the-charge-consortium
#4
S Debette, Y Saba, D Vojinovic, X Jian, H Adams, G Chauhan, M Sargurupremraj, S Kaffashian, J Ding, J C Bis, P Nyquist, K Mather, C Van Duijn, L J Launer, M A Ikram, H Schmidt, W T Longstreth, M Fornage, S Seshadri
The CHARGE consortium is an investigator-initiated collaboration to facilitate meta-analyses of genome-wide association studies (GWAS) and genomic analyses based on next generation sequencing (NGS), among multiple large and well-phenotyped population-based cohort studies around the world (http://www.chargeconsortium.com). Within the neuro-CHARGE working group, we are presenting an update of ongoing genomic studies on MRI-markers of cerebrovascular disease. Large population-based studies have shown that the burden of cerebrovascular disease extends far beyond that of clinical stroke...
March 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28424613/the-relationship-between-cerebral-small-vessel-disease-hippocampal-volume-and-cognitive-functioning-in-patients-with-copd-an-mri-study
#5
Fiona A H M Cleutjens, Rudolf W H M Ponds, Martijn A Spruit, Saartje Burgmans, Heidi I L Jacobs, Ed H B M Gronenschild, Julie Staals, Frits M E Franssen, Jeanette B Dijkstra, Lowie E G W Vanfleteren, Paul A Hofman, Emiel F M Wouters, Daisy J A Janssen
The neural correlates of cognitive impairment in chronic obstructive pulmonary disease (COPD) are not yet understood. Structural brain abnormalities could possibly be associated with the presence of cognitive impairment through cigarette smoke, inflammation, vascular disease, or hypoxemia in these patients. This study aimed to investigate whether macrostructural brain magnetic resonance imaging (MRI) features of cerebral small vessel disease (SVD) and hippocampal volume (HCV) are related to cognitive performance in patients with COPD...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28424147/treatment-of-leukoencephalopathy-with-calcifications-and-cysts-with-bevacizumab
#6
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez
BACKGROUND: Leukoencephalopathy with calcifications and cysts is a rare, autosomal recessive cerebral microangiopathy that causes progressive white matter disease, calcifications, and cysts within the brain. It is typically associated with slowly progressive psychomotor regression, seizures, and movement disorders. Although leukoencephalopathy with calcifications and cysts affects only the central nervous system, it demonstrates remarkable neuropathologic and radiologic overlap with Coats plus, a disorder of small vessels of the brain, eyes, gastrointestinal tract, and bone...
March 23, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28356461/parental-family-history-of-dementia-in-relation-to-subclinical-brain-disease-and-dementia-risk
#7
Frank J Wolters, Sven J van der Lee, Peter J Koudstaal, Cornelia M van Duijn, Albert Hofman, M Kamran Ikram, Meike W Vernooij, M Arfan Ikram
OBJECTIVE: To determine the association of parental family history with risk of dementia by age at onset and sex of affected parent in a population-based cohort. METHODS: From 2000 to 2002, we assessed parental history of dementia in participants without dementia of the Rotterdam Study. We investigated associations of parental history with risk of dementia until 2015, adjusting for demographics, cardiovascular risk factors, and known genetic risk variants. Furthermore, we determined the association between parental history and markers of neurodegeneration and vascular disease on MRI...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28302914/new-insights-into-mechanisms-of-small-vessel-disease-stroke-from-genetics
#8
REVIEW
Rhea Tan, Matthew Traylor, Loes Rutten-Jacobs, Hugh Markus
Cerebral small vessel disease (SVD) is a common cause of lacunar strokes, vascular cognitive impairment (VCI) and vascular dementia. SVD is thought to result in reduced cerebral blood flow, impaired cerebral autoregulation and increased blood-brain barrier (BBB) permeability. However, the molecular mechanisms underlying SVD are incompletely understood. Recent studies in monogenic forms of SVD, such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and 'sporadic' SVD have shed light on possible disease mechanisms in SVD...
April 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28299725/defining-the-relationship-between-hypertension-cognitive-decline-and-dementia-a-review
#9
REVIEW
Keenan A Walker, Melinda C Power, Rebecca F Gottesman
Hypertension is a highly prevalent condition which has been established as a risk factor for cardiovascular and cerebrovascular disease. Although the understanding of the relationship between cardiocirculatory dysfunction and brain health has improved significantly over the last several decades, it is still unclear whether hypertension constitutes a potentially treatable risk factor for cognitive decline and dementia. While it is clear that hypertension can affect brain structure and function, recent findings suggest that the associations between blood pressure and brain health are complex and, in many cases, dependent on factors such as age, hypertension chronicity, and antihypertensive medication use...
March 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28281108/recognizing-cadasil-a-secondary-cause-of-migraine-with-aura
#10
REVIEW
John Glenn Burkett, Carrie Dougherty
PURPOSE OF REVIEW: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an important disease to consider in the differential diagnosis of migraine with aura. This review examines current literature regarding migraine in CADASIL, as well as diagnostic and treatment modalities. RECENT FINDINGS: Recent studies have shown that smoking is a modifiable risk factor for progression of CADASIL (Chabriat et al. in Stroke 47:4-11, 2015)...
April 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/28275245/prevalence-of-fabry-disease-and-gla-c-196g-c-variant-in-japanese-stroke-patients
#11
Kiyoshiro Nagamatsu, Yoshiki Sekijima, Katsuya Nakamura, Kimitoshi Nakamura, Kiyoko Hattori, Masao Ota, Yusaku Shimizu, Fumio Endo, Shu-Ichi Ikeda
Fabry disease is an important underlying disease in young cryptogenic stroke patients. However, little is known regarding the frequency of Fabry disease in the general stroke population, especially in elderly patients. A total of 588 stroke patients (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. Blood samples were obtained to produce blood spots to determine α-galactosidase A (α-GalA) activity and for GLA gene analysis. One 65-year-old female patient had a known GLA gene mutation, c...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28260527/genetics-of-vascular-dementia-review-from-the-icvd-working-group
#12
REVIEW
M Arfan Ikram, Anna Bersano, Raquel Manso-Calderón, Jian-Ping Jia, Helena Schmidt, Lefkos Middleton, Benedetta Nacmias, Saima Siddiqi, Hieab H H Adams
BACKGROUND: Vascular dementia is a common disorder resulting in considerable morbidity and mortality. Determining the extent to which genes play a role in disease susceptibility and their pathophysiological mechanisms could improve our understanding of vascular dementia, leading to a potential translation of this knowledge to clinical practice. DISCUSSION: In this review, we discuss what is currently known about the genetics of vascular dementia. The identification of causal genes remains limited to monogenic forms of the disease, with findings for sporadic vascular dementia being less robust...
March 6, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28254515/hereditary-cerebral-small-vessel-disease-and-stroke
#13
REVIEW
Christian Baastrup Søndergaard, Jørgen Erik Nielsen, Christine Krarup Hansen, Hanne Christensen
Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis...
April 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#14
Jung-Hwan Oh, Bong Su Kang, Jay Chol Choi
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease of the cerebral small blood vessels characterized by recurrent ischemic strokes, migraine, and progressive cognitive impairment. In patients with CADASIL, in whom subcortical white matter structures are typically involved, epileptic seizures have been rarely reported as an initial clinical symptom. We describe a patient genetically confirmed as having CADASIL who initially presented with a seizure...
December 2016: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/28095900/post-stroke-dementia-a-comprehensive-review
#15
REVIEW
Milija D Mijajlović, Aleksandra Pavlović, Michael Brainin, Wolf-Dieter Heiss, Terence J Quinn, Hege B Ihle-Hansen, Dirk M Hermann, Einor Ben Assayag, Edo Richard, Alexander Thiel, Efrat Kliper, Yong-Il Shin, Yun-Hee Kim, SeongHye Choi, San Jung, Yeong-Bae Lee, Osman Sinanović, Deborah A Levine, Ilana Schlesinger, Gillian Mead, Vuk Milošević, Didier Leys, Guri Hagberg, Marie Helene Ursin, Yvonne Teuschl, Semyon Prokopenko, Elena Mozheyko, Anna Bezdenezhnykh, Karl Matz, Vuk Aleksić, DafinFior Muresanu, Amos D Korczyn, Natan M Bornstein
Post-stroke dementia (PSD) or post-stroke cognitive impairment (PSCI) may affect up to one third of stroke survivors. Various definitions of PSCI and PSD have been described. We propose PSD as a label for any dementia following stroke in temporal relation. Various tools are available to screen and assess cognition, with few PSD-specific instruments. Choice will depend on purpose of assessment, with differing instruments needed for brief screening (e.g., Montreal Cognitive Assessment) or diagnostic formulation (e...
January 18, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28064357/ischemic-stroke-experimental-models-and-reality
#16
REVIEW
Clemens J Sommer
The vast majority of cerebral stroke cases are caused by transient or permanent occlusion of a cerebral blood vessel ("ischemic stroke") eventually leading to brain infarction. The final infarct size and the neurological outcome depend on a multitude of factors such as the duration and severity of ischemia, the existence of collateral systems and an adequate systemic blood pressure, etiology and localization of the infarct, but also on age, sex, comorbidities with the respective multimedication and genetic background...
February 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28002537/cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-in-acromegalic-patient-with-severe-headache
#17
LuminiŢa Nicoleta Cima, Simona Vasilica Fica, Alice Ioana Albu, Ioana Maria Lambrescu, Ioana SmărăndiŢa Lăcău, Bogdan Ovidiu Popescu, Mihaela Gherghiceanu, Corin Virgil Badiu, Carmen Gabriela Barbu
A 68-year-old female patient was admitted in our clinic with severe frontal bilateral headache, dizziness, depression and cognitive decline in the context of a previously diagnosed acromegaly. She also had high blood pressure, dyslipidemia, secondary diabetes mellitus. Acromegaly was caused by a growth hormone (GH) secreting-pituitary macroadenoma, so a transsphenoidal surgery was performed. The postoperative magnetic resonance imaging (MRI) scan revealed a 20÷22÷25 mm pituitary mass remnant and medical therapy with somatostatin analogues (SSAs) was started...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27997041/genetic-variation-at-16q24-2-is-associated-with-small-vessel-stroke
#18
Matthew Traylor, Rainer Malik, Mike A Nalls, Ioana Cotlarciuc, Farid Radmanesh, Gudmar Thorleifsson, Ken B Hanscombe, Carl Langefeld, Danish Saleheen, Natalia S Rost, Idil Yet, Tim D Spector, Jordana T Bell, Eilis Hannon, Jonathan Mill, Ganesh Chauhan, Stephanie Debette, Joshua C Bis, W T Longstreth, M Arfan Ikram, Lenore J Launer, Sudha Seshadri, Monica Anne Hamilton-Bruce, Jordi Jimenez-Conde, John W Cole, Reinhold Schmidt, Agnieszka Słowik, Robin Lemmens, Arne Lindgren, Olle Melander, Raji P Grewal, Ralph L Sacco, Tatjana Rundek, Kathryn Rexrode, Donna K Arnett, Julie A Johnson, Oscar R Benavente, Sylvia Wasssertheil-Smoller, Jin-Moo Lee, Sara L Pulit, Quenna Wong, Stephen S Rich, Paul I W de Bakker, Patrick F McArdle, Daniel Woo, Christopher D Anderson, Huichun Xu, Laura Heitsch, Myriam Fornage, Christina Jern, Kari Stefansson, Unnur Thorsteinsdottir, Solveig Gretarsdottir, Cathryn M Lewis, Pankaj Sharma, Cathie L M Sudlow, Peter M Rothwell, Giorgio B Boncoraglio, Vincent Thijs, Chris Levi, James F Meschia, Jonathan Rosand, Steven J Kittner, Braxton D Mitchell, Martin Dichgans, Bradford B Worrall, Hugh S Markus
OBJECTIVE: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises one quarter of all ischemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown that younger-onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger-onset SVS population, to identify novel associations with stroke...
March 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27960175/moyamoya-disease
#19
REVIEW
Miki Fujimura, Oh Young Bang, Jong S Kim
Moyamoya disease (MMD) is a chronic occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology is unknown, recent genetic studies have identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. A c.14576G>A polymorphism in RNF213 was identified in 95% of MMD patients with a family history and in 79% of sporadic cases, and patients carrying this polymorphism exhibited significantly earlier disease onset and a more-severe form of MMD...
2016: Frontiers of Neurology and Neuroscience
https://www.readbyqxmd.com/read/27960158/risk-factors
#20
REVIEW
T Uehara, O Y Bang, J S Kim, K Minematsu, R Sacco
Studies investigating risk factors for intracranial atherosclerosis (ICAS) have been infrequent. However, due to recent availability of non-invasive vascular imaging techniques that can assess intracranial cerebral arteries, there are a growing number of studies on risk factors for ICAS. Conventional vascular risk factors such as hypertension, diabetes, hypercholesterolemia and cigarette smoking are risk factors for ICAS. However, it remains uncertain whether there is a difference in risk factors between ICAS and extracranial atherosclerosis (ECAS)...
2016: Frontiers of Neurology and Neuroscience
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