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https://www.readbyqxmd.com/read/28434675/cadasil-as-a-useful-medical-model-and-genetic-form-of-vascular-depression
#1
Joon Hyuk Park, Bong-Hee Jeon, Jung Seok Lee, Paul A Newhouse, Warren D Taylor, Brian D Boyd, Ki Woong Kim, Moon-Doo Kim
OBJECTIVE: The main magnetic resonance imaging (MRI) findings of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are white matter hyperintensities (WMHs), lacunar infarctions, and cerebral microbleeds (CMBs). The purpose of this study was to investigate the effects of these three neuroimaging markers of CADASIL on depression to determine whether CADASIL is a useful medical model supporting the vascular depression hypothesis. METHODS: Eighty-four subjects with CADASIL, aged 34-86 years, participated in this study...
March 23, 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28396100/the-implications-of-cadasil-as-a-genetic-model-of-vascular-depression
#2
EDITORIAL
Sara N Rushia, Ernst Garcon, Joel R Sneed
No abstract text is available yet for this article.
March 18, 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28382307/cadasil-two-new-cases-with-intracerebral-hemorrhage
#3
Chen Zhang, Wei Li, Shaowu Li, Songtao Niu, Xingao Wang, Hefei Tang, Xueying Yu, Bin Chen, Yuzhi Shi, Qihua Chen, Liying Guo, Yunzhu Pan, Yilong Wang, Zaiqiang Zhang
Whether cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcomes remains unclear. In this study, we report two cases of CADASIL presenting with cerebral hemorrhages. These cases suggest that a CADASIL vasculopathy by itself mainly results in ICH, as indicated by slight vascular risk factors and prominent neuroimaging abnormalities, suggesting that CADASIL should be considered a risk factor for ICH...
April 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28378255/vitamin-d-levels-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil
#4
Maria Alessandra Carluccio, Ilaria Di Donato, Francesca Pescini, Marco Battaglini, Silvia Bianchi, Raffaella Valenti, Serena Nannucci, Beatrice Franci, Maria Laura Stromillo, Nicola De Stefano, Domenico Inzitari, Leonardo Pantoni, Ranuccio Nuti, Antonio Federico, Stefano Gonnelli, Maria Teresa Dotti
Besides its well known function on bone metabolism, vitamin D role in cerebrovascular pathologies including cerebral small vessel disease has been confirmed by recent meta-analysis. In this study, we measured vitamin D levels in 56 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients (mean age 49.9) with no or minimal disability (modified Ranking Score, mRS ≤2) and in 56 age, sex and seasonality matched healthy controls. History of ischemic events was recorded and cognitive functions were assessed using the Mini-Mental State Examination...
April 4, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28364025/cortical-superficial-siderosis-in-different-types-of-cerebral-small-vessel-disease
#5
Frank Arne Wollenweber, Ebru Baykara, Marialuisa Zedde, Benno Gesierich, Melanie Achmüller, Eric Jouvent, Anand Viswanathan, Stefan Ropele, Hugues Chabriat, Reinhold Schmidt, Christian Opherk, Martin Dichgans, Jennifer Linn, Marco Duering
BACKGROUND AND PURPOSE: Cortical superficial siderosis (cSS) has emerged as a clinically relevant imaging feature of cerebral amyloid angiopathy (CAA). However, it remains unknown whether cSS is also present in nonamyloid-associated small vessel disease and whether patients with cSS differ in terms of other small vessel disease imaging features. METHODS: Three hundred sixty-four CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) patients, 372 population-based controls, and 100 CAA patients with cSS (fulfilling the modified Boston criteria for possible/probable CAA) were included...
March 31, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28348068/focal-macroscopic-cortical-lesions-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#6
Aicha Lyoubi-Idrissi, François De Guio, Hugues Chabriat, Eric Jouvent
BACKGROUND AND PURPOSE: Cortical microinfarcts and secondary cortical degeneration have been demonstrated in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a severe monogenic cerebral small vessel disease. The aim of this study was to determine whether focal macroscopic cortical lesions can be detected using a specific in vivo magnetic resonance imaging approach. METHODS: Three-dimensional T1 magnetic resonance imaging scans were obtained in 28 nondemented nondisabled CADASIL patients and 29 age- and sex-matched controls...
March 27, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28345617/stimulation-of-adult-hippocampal-neurogenesis-by-physical-exercise-and-enriched-environment-is-disturbed-in-a-cadasil-mouse-model
#7
C Klein, S Schreyer, F E Kohrs, P Elhamoury, A Pfeffer, T Munder, B Steiner
In the course of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a dysregulated adult hippocampal neurogenesis has been suggested as a potential mechanism for early cognitive decline. Previous work has shown that mice overexpressing wild type Notch3 and mice overexpressing Notch3 with a CADASIL mutation display impaired cell proliferation and survival of newly born hippocampal neurons prior to vascular abnormalities. Here, we aimed to elucidate how the long-term survival of these newly generated neurons is regulated by Notch3...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28341077/first-report-of-arg587cys-mutation-of-notch3-gene-in-two-chinese-families-with-cadasil
#8
Jinsong You, Shaojun Liao, Foming Zhang, Zhaohui Ma, Guifu Li
OBJECTIVE: To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China. RESULT: A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis. CONCLUSION: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported...
January 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28320141/functional-magnetic-resonance-imaging-responses-in-cadasil
#9
Ikreet Cheema, Aaron R Switzer, Cheryl R McCreary, Michael D Hill, Richard Frayne, Bradley G Goodyear, Eric E Smith
OBJECTIVES: The magnitude of the blood oxygen dependent level (BOLD) functional MRI (fMRI) response to visual stimulation is reduced in the small vessel disease cerebral amyloid angiopathy (CAA), reflecting impaired vascular reactivity. We determined whether BOLD responses were reduced in another small vessel disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: BOLD fMRI data were collected using a visual stimulus (contrast-reversing checkerboard) and motor task (finger-tapping)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28302914/new-insights-into-mechanisms-of-small-vessel-disease-stroke-from-genetics
#10
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/28293466/cadasil-ultrastructural-insights-into-the-morphology-of-granular-osmiophilic-material
#11
Teresa Lorenzi, Michele Ragno, Francesca Paolinelli, Clara Castellucci, Marina Scarpelli, Manrico Morroni
INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary systemic vascular disorder. Granular osmiophilic material (GOM) is its ultrastructural marker. We reviewed tissue biopsies from CADASIL patients to establish whether ultrastructural observations help clarify the pathogenic mechanism of CADASIL. Given the resemblance of the GOM deposits to the immunoglobulin deposits seen in glomerulonephritis and focal segmental glomerulosclerosis (FSGS), their morphologies were investigated and compared...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28281108/recognizing-cadasil-a-secondary-cause-of-migraine-with-aura
#12
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/28271496/genetics-of-migraine-insights-into-the-molecular-basis-of-migraine-disorders
#13
REVIEW
Heidi G Sutherland, Lyn R Griffiths
Migraine is a complex, debilitating neurovascular disorder, typically characterized by recurring, incapacitating attacks of severe headache often accompanied by nausea and neurological disturbances. It has a strong genetic basis demonstrated by rare migraine disorders caused by mutations in single genes (monogenic), as well as familial clustering of common migraine which is associated with polymorphisms in many genes (polygenic). Hemiplegic migraine is a dominantly inherited, severe form of migraine with associated motor weakness...
April 2017: Headache
https://www.readbyqxmd.com/read/28254515/hereditary-cerebral-small-vessel-disease-and-stroke
#14
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/28230487/pathology-goes-3d-exploring-the-potential-of-array-tomography-versus-fib-nanotomography-for-a-cadasil-sample
#15
Irene Wacker, Rasmus R Schröder, Josef A Schroeder
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28202707/cadasil-accelerated-by-acute-hypotension-arterial-and-venous-contribution-to-leukoaraiosis
#16
Jacqueline A Pettersen, Julia Keith, Fuqiang Gao, J David Spence, Sandra E Black
OBJECTIVE: To underline the importance of blood pressure regulation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to describe changes that occur in the veins in this condition, specifically venous collagenosis associated with leukoaraiosis. METHODS: Case report with neuroimaging and pathologic data. RESULTS: A 61-year-old man with genetically confirmed CADASIL was initially lucid following a motor vehicle accident but subsequently became hypotensive (60/40 mm Hg) due to an open femur fracture and required intubation...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28169007/identification-of-the-first-in-poland-cacna1a-gene-mutation-in-familial-hemiplegic-migraine-case-report
#17
Biruta Kierdaszuk, Dorota Dziewulska, Ewa Pronicka, Joanna Trubicka, Dariusz Rokicki, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Katarzyna Tonska, Ewa Bartnik, Rafal Ploski, Anna M Kaminska
INTRODUCTION: Migraine is a common neurological disorder characterized by a particular phenotype, complex pathophysiology and a heterogeneous genetic background. Among several heritable forms, familial hemiplegic migraine is the best described one. In the majority of cases it is caused by mutations in one of three different genes. CASE REPORT: Clinical symptoms of a 47 year old proband (and independently described in his 20 year old son) as well as differential diagnosis are discussed in the presented report...
January 21, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28157751/inherited-and-uncommon-causes-of-stroke
#18
Jennifer Juhl Majersik
PURPOSE OF REVIEW: This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke. RECENT FINDINGS: Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement therapy should be considered in affected patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), often misdiagnosed as multiple sclerosis, causes migraines, early-onset lacunar strokes, and dementia...
February 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28128022/different-types-of-white-matter-hyperintensities-in-cadasil-insights-from-7-tesla-mri
#19
François De Guio, Alexandre Vignaud, Hugues Chabriat, Eric Jouvent
In Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), by contrast to sporadic cerebral small vessel disease related to age and hypertension, white matter hyperintensities (WMH) are frequently observed in the white matter of anterior temporal poles, external capsules, and superior frontal regions. Whether these WMH (specific WMH) differ from those observed in other white matter areas (nonspecific WMH) remains unknown. Twenty patients were scanned to compare specific and nonspecific WMH using high-resolution images and analyses of relaxation times (T1R: longitudinal relaxation time and T2*R: effective transversal relaxation time)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28118831/translational-models-for-vascular-cognitive-impairment-a-review-including-larger-species
#20
REVIEW
Atticus H Hainsworth, Stuart M Allan, Johannes Boltze, Catriona Cunningham, Chad Farris, Elizabeth Head, Masafumi Ihara, Jeremy D Isaacs, Raj N Kalaria, Saskia A M J Lesnik Oberstein, Mark B Moss, Björn Nitzsche, Gary A Rosenberg, Julie W Rutten, Melita Salkovic-Petrisic, Aron M Troen
BACKGROUND: Disease models are useful for prospective studies of pathology, identification of molecular and cellular mechanisms, pre-clinical testing of interventions, and validation of clinical biomarkers. Here, we review animal models relevant to vascular cognitive impairment (VCI). A synopsis of each model was initially presented by expert practitioners. Synopses were refined by the authors, and subsequently by the scientific committee of a recent conference (International Conference on Vascular Dementia 2015)...
January 25, 2017: BMC Medicine
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