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Genetic cerebral vessel disease

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https://www.readbyqxmd.com/read/28302914/new-insights-into-mechanisms-of-small-vessel-disease-stroke-from-genetics
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
February 22, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28101484/cadasil-initially-presented-with-a-seizure
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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