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https://www.readbyqxmd.com/read/28617385/-differential-diagnosis-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#1
A A Moroz, N Yu Abramycheva, M S Stepanova, R N Konovalov, S L Timerbaeva, S N Illarioshkin
Cerebral autosomal dominant arteriopathy with subcortical infarctions and leucoencephalopathy (CADASIL) is an inherited CNS disease, which is caused by mutations in the NOTCH3 gene. Selective disorders of small vessels underlie the disease pathogenesis. Clinically CADASIL is characterized by headaches, multiple stroke-like disorders (in most cases transient ischemic attacks and lacunar strokes), and different focal neurological symptoms and dementia. There are specific MRI signs of the disease: multiple lacunar infarctions located in the basal ganglia, brain steam and cerebellum, focal lesions of temporal poles, capsula externa, periventricular and subcortical areas; diffuse white matter changes and leukoaraiosis can be observed as well...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28608406/pregnancy-in-cadasil
#2
I Donnini, V Rinnoci, S Nannucci, R Valenti, F Pescini, G Mariani, S Bianchi, M T Dotti, A Federico, D Inzitari, L Pantoni
OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease caused by NOTCH3 gene mutations. CADASIL women are frequently considered at high risk of systemic vascular events during pregnancy and often prescribed with antithrombotic drugs. This decision is not evidence-based considering the lack of data about pregnancy outcome in CADASIL. We describe our experience on pregnancy in CADASIL patients...
June 12, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28601945/cadasil-mutant-notch3-r90c-decreases-the-viability-of-hs683-oligodendrocytes-via-apoptosis
#3
Mibo Tang, Changhe Shi, Bo Song, Jing Yang, Ting Yang, Chengyuan Mao, Yusheng Li, Xinjing Liu, Shuyu Zhang, Hui Wang, Haiyang Luo, Yuming Xu
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease caused by mutations in NOTCH3. Prevailing models suggest that demyelination occurs secondary to vascular pathology. However, in zebrafish, NOTCH3 is also expressed in mature oligodendrocytes. Thus, we hypothesized that in addition to vascular defects, mutant NOTCH3 may alter glial function in individuals with CADASIL. The aim of this study was to characterize the direct effects of a mutant NOTCH3 protein in HS683 oligodendrocytes...
June 10, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28585592/magnetic-resonance-spectroscopy-and-magnetic-resonance-spectroscopic-imaging-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-a-literature-review
#4
Ali Sibtain Farooq Sheikh, Mona Adel Mohamed
This review focuses on the current literature directed towards the brain metabolite findings in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) disease using magnetic resonance spectroscopy (MRS) and magnetic resonance spectroscopic imaging (MRSI). Using search terms "metabolites", "spectroscopy", and "CADASIL", six articles were found on PubMed database, Scopus and Google Scholar. Changes in metabolites concentrations and relative ratios (RR) were found not only in abnormal but also in normal-appearing brain regions...
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28555127/cerebral-microbleeds-hypertension-and-intracerebral-hemorrhage-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#5
Jung Seok Lee, KeunHyuk Ko, Jung-Hwan Oh, Joon Hyuk Park, Ho Kyu Lee, David Floriolli, Annlia Paganini-Hill, Mark Fisher
BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of stroke. In addition to ischemic stroke, CADASIL predisposes to development of cerebral microbleeds (CMB). CMB and hypertension are known to be associated with intracerebral hemorrhage (ICH). The purpose of this study was to analyze the relationships among CMB, hypertension, and ICH in CADASIL. MATERIALS AND METHODS: We enrolled 94 genetically confirmed CADASIL patients from 76 unrelated families at Jeju National University Hospital (Korea) between March 2012 and February 2015...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28549449/fatal-familial-insomnia-with-abnormal-signals-on-routine-mri-a-case-report-and-literature-review
#6
Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu
BACKGROUND: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CASE PRESENTATION: The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration...
May 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28537106/vasoreactivity-in-cadasil-comparison-to-structural-mri-and-neuropsychology
#7
Fiona C Moreton, Breda Cullen, Christian Delles, Celestine Santosh, Rosario L Gonzalez, Krishna Dani, Keith W Muir
Impaired cerebrovascular reactivity precedes histological and clinical evidence of CADASIL in animal models. We aimed to more fully characterise peripheral and cerebral vascular function and reactivity in a cohort of adult CADASIL patients, and explore the associations of these with conventional clinical, imaging and neuropsychological measures. A total of 22 adults with CADASIL gave informed consent to participate in an exploratory study of vascular function in CADASIL. Clinical assessment, comprehensive vascular assessment, MRI and neuropsychological testing were conducted...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28534048/the-first-report-of-cadasil-in-peru-olfactory-dysfunction-on-initial-presentation
#8
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits...
December 2016: ENeurologicalSci
https://www.readbyqxmd.com/read/28512196/the-developmental-biology-of-genetic-notch-disorders
#9
REVIEW
Jan Mašek, Emma R Andersson
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28469098/study-of-enhanced-depth-imaging-optical-coherence-tomography-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#10
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/28452354/stroke-cortical-superficial-siderosis-absent-in-cadasil
#11
Charlotte Ridler
No abstract text is available yet for this article.
June 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28434675/cadasil-as-a-useful-medical-model-and-genetic-form-of-vascular-depression
#12
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
#13
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
#14
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
#15
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
#16
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...
May 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
#17
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
#18
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
#19
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
#20
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
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