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Genetic cerebral vessel disease

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https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#1
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
#2
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
#3
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
#4
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
#5
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, 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 a quarter of all ischaemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown 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...
December 20, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27960175/moyamoya-disease
#6
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
#7
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
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#8
Neven Maksemous, Robert A Smith, Larisa M Haupt, Lyn R Griffiths
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with familial hemiplegic migraine and several ataxia disorders as well as the location of the currently identified causative mutations...
November 24, 2016: Human Genomics
https://www.readbyqxmd.com/read/27821617/increased-notch3-activity-mediates-pathological-changes-in-structure-of-cerebral-arteries
#9
Celine Baron-Menguy, Valérie Domenga-Denier, Lamia Ghezali, Frank M Faraci, Anne Joutel
CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy), the most frequent genetic cause of stroke and vascular dementia, is caused by highly stereotyped mutations in the NOTCH3 receptor, which is predominantly expressed in vascular smooth muscle. The well-established TgNotch3(R169C) mouse model develops characteristic features of the human disease, with deposition of NOTCH3 and other proteins, including TIMP3 (tissue inhibitor of metalloproteinase 3), on brain vessels, as well as reduced maximal dilation, and attenuated myogenic tone of cerebral arteries, but without elevated blood pressure...
January 2017: Hypertension
https://www.readbyqxmd.com/read/27789153/de-novo-development-of-moyamoya-disease-in-an-adult-female-with-a-genetic-variant-of-the-rnf-213-gene-case-report
#10
Ryosuke Tashiro, Miki Fujimura, Kuniyasu Niizuma, Hidenori Endo, Hiroyuki Sakata, Mika Sato-Maeda, Teiji Tominaga
BACKGROUND: The de novo development of moyamoya disease (MMD) in adults is extremely rare, with only 2 cases being previously reported. Furthermore, the mechanisms underlying the progression of adult MMD have not been elucidated yet. CASE REPORT: A transient ischemic attack occurred in a 46-year-old woman, owing to progressive MMD. Magnetic resonance (MR) angiography performed 7 years before the diagnosis of MMD did not detect any steno-occlusive changes in the major intracranial vessels, including the internal carotid artery (ICA) and the middle cerebral artery (MCA)...
January 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27664989/cathepsin-a-related-arteriopathy-with-strokes-and-leukoencephalopathy-carasal
#11
Marianna Bugiani, Sietske H Kevelam, Hannah S Bakels, Quinten Waisfisz, Chantal Ceuterick-de Groote, Hans W M Niessen, Truus E M Abbink, Saskia A M J Lesnik Oberstein, Marjo S van der Knaap
OBJECTIVE: To characterize the clinical and MRI features of 2 families with adult-onset dominant leukoencephalopathy and strokes and identify the underlying genetic cause. METHODS: We applied MRI pattern recognition, whole-exome sequencing, and neuropathology. RESULTS: Based on brain imaging, 13 family members of 40 years or older from 2 families were diagnosed with the disease; in 11 family members of the same age, MRI was normal. In the affected family members, MRI showed a leukoencephalopathy that was disproportionately severe compared to the clinical disease...
October 25, 2016: Neurology
https://www.readbyqxmd.com/read/27634960/histopathologic-analysis-of-cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-carasil-a-report-of-a-new-genetically-confirmed-case-and-comparison-to-2-previous-cases
#12
Shinji Ito, Masaki Takao, Toshio Fukutake, Hiroyuki Hatsuta, Sayaka Funabe, Nobuo Ito, Yutaka Shimoe, Toshiro Niki, Imaharu Nakano, Masashi Fukayama, Shigeo Murayama
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a nonhypertensive hereditary cerebral small vessel disease that is caused by mutations in a single gene, HTRA1 The HTRA1 protein normally represses transforming growth factor-β (TGF-β) signaling and its mutations result in vascular changes. Ten homozygous, 1 compound heterozygous, and 1 homozygous frameshift mutation have been identified in the HTRA1 gene of patients with genetically confirmed CARASIL...
September 15, 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27604306/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
#13
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27591799/cadasil-imaging-characteristics-and-clinical-correlation
#14
REVIEW
Shuhan Zhu, Stephanie J Nahas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene located on chromosome 19p13. CADASIL causes a clinical syndrome of migraines (frequently with aura), progressive strokes, and cognitive decline in adults leading to severe functional impairment by the seventh decade of life. Genetic testing is the gold standard for diagnosing this condition, but the syndrome can be suspected clinically based on history and a characteristic pattern of confluent subcortical white matter disease in the anterior temporal poles and external capsule...
October 2016: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/27589527/vascular-contributions-in-alzheimer-s-disease-related-neuropathological-changes-first-autopsy-evidence-from-a-south-asian-aging-population
#15
Printha Wijesinghe, S K Shankar, T C Yasha, Catherine Gorrie, Dhammika Amaratunga, Sanjayah Hulathduwa, K Sunil Kumara, Kamani Samarasinghe, Yoo-Hun Suh, Harry W M Steinbusch, K Ranil D De Silva
BACKGROUND: Evidence from various consortia on vascular contributions has been inconsistent in determining the etiology of sporadic Alzheimer's disease (AD). OBJECTIVE: To investigate vascular risk factors and cerebrovascular pathologies associated in manifestation of AD-related neuropathological changes of an elderly population. METHODS: Postmortem brain samples from 76 elderly subjects (≥50 years) were used to study genetic polymorphisms, intracranial atherosclerosis of the circle of Willis (IASCW), and microscopic infarcts in deep white matters...
October 18, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27534713/cortical-superficial-siderosis-prevalence-and-biomarker-profile-in-a-memory-clinic-population
#16
Sara Shams, Juha Martola, Andreas Charidimou, Lena Cavallin, Tobias Granberg, Mana Shams, Yngve Forslin, Peter Aspelin, Maria Kristoffersen-Wiberg, Lars-Olof Wahlund
OBJECTIVE: To gain further insight into cortical superficial siderosis (cSS), a new hemorrhagic neuroimaging marker of cerebral amyloid angiopathy (CAA), and to investigate the clinical, neuroimaging, genetic, and CSF biomarker profile of cSS in a large, consecutive memory clinic series. METHODS: We included 1,504 memory clinic patients undergoing dementia investigation including a brain MRI in our center. Routine CSF biomarker analysis was performed in 1,039 patients and APOE genotyping in 520 patients...
September 13, 2016: Neurology
https://www.readbyqxmd.com/read/27533483/association-of-frequent-genetic-variants-in-platelet-activation-pathway-genes-with-large-vessel-ischemic-stroke-in-polish-population
#17
Marek Postula, Piotr K Janicki, Lukasz Milanowski, Justyna Pordzik, Ceren Eyileten, Michal Karlinski, Pawel Wylezol, Marta Solarska, Anna Czlonkowka, Iwona Kurkowska-Jastrzebka, Shigekazu Sugino, Yuka Imamura, Dagmara Mirowska-Guzel
Platelets are critically involved in the development of cerebral ischemia. Our study aimed to establish an association between frequent (minor allele frequency (MAF) > 5%) genetic polymorphisms in 84 candidate genetic loci previously linked to platelet reactivity by the use of next-generation sequencing of exons from pooled DNA samples in Polish patients with a history of large-vessel ischemic stroke. Genetic analysis was performed on blood samples obtained from 500 patients (diagnosed with acute non-cardioembolic ischemic stroke with coexisting large-artery atherosclerosis) and age/sex/history of smoking matching 500 controls of Polish origin with high risk of cardiovascular disease...
January 2017: Platelets
https://www.readbyqxmd.com/read/27518166/a-novel-imaging-marker-for-small-vessel-disease-based-on-skeletonization-of-white-matter-tracts-and-diffusion-histograms
#18
Ebru Baykara, Benno Gesierich, Ruth Adam, Anil Man Tuladhar, J Matthijs Biesbroek, Huiberdina L Koek, Stefan Ropele, Eric Jouvent, Hugues Chabriat, Birgit Ertl-Wagner, Michael Ewers, Reinhold Schmidt, Frank-Erik de Leeuw, Geert Jan Biessels, Martin Dichgans, Marco Duering
OBJECTIVE: To establish a fully automated, robust imaging marker for cerebral small vessel disease (SVD) and related cognitive impairment that is easy to implement, reflects disease burden, and is strongly associated with processing speed, the predominantly affected cognitive domain in SVD. METHODS: We developed a novel magnetic resonance imaging marker based on diffusion tensor imaging, skeletonization of white matter tracts, and histogram analysis. The marker (peak width of skeletonized mean diffusivity [PSMD]) was assessed along with conventional SVD imaging markers...
October 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27497491/delayed-seizures-after-intracerebral-haemorrhage
#19
Alessandro Biffi, Abbas Rattani, Christopher D Anderson, Alison M Ayres, Edip M Gurol, Steven M Greenberg, Jonathan Rosand, Anand Viswanathan
Late seizures after intracerebral haemorrhage occur after the initial acute haemorrhagic insult subsides, and represent one of its most feared long-term sequelae. Both susceptibility to late seizures and their functional impact remain poorly characterized. We sought to: (i) compare patients with new-onset late seizures (i.e. delayed seizures), with those who experienced a recurrent late seizure following an immediately post-haemorrhagic seizure; and (ii) investigate the effect of late seizures on long-term functional performance after intracerebral haemorrhage...
August 6, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27393281/copy-number-variations-and-stroke
#20
REVIEW
Valeria Colaianni, Rosalucia Mazzei, Sebastiano Cavallaro
Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been recently identified as a new tool for understanding the genetic basis of many diseases. This review discusses the current understanding of the types of stroke, the existing knowledge on the involvement of specific CNVs in stroke as well as the limitations of the methods used for detecting CNVs like SNP-microarray...
December 2016: Neurological Sciences
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