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https://www.readbyqxmd.com/read/29760289/-neurocognitive-disorders-other-than-alzheimer-disease-vascular-dementia
#1
Mari Yoshida
Vascular dementia involves several mechanism of pathogenesis. Cerebral small vessel diseases play a central role in vascular dementia, including sporadic cerebral small vessel diseases, cerebral autosomal-dominant or autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL or CARASIL), cerebral amyloid angiopathy, and amyloid β-related angiitis. Although these diseases have different pathomechanisms, chronic white matter hypoperfusion contributes to development of neuronal dysfunction as a common pathway in vascular dementia...
May 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29757481/severe-white-matter-astrocytopathy-in-cadasil
#2
Yoshiki Hase, Aiqing Chen, Letitia L Bates, Lucinda J L Craggs, Yumi Yamamoto, Elizabeth Gemmell, Arthur E Oakley, Viktor I Korolchuk, Raj N Kalaria
Objectives Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterised by strategic white matter (WM) hyperintensities on MRI. Pathological features include WM degeneration, arteriolosclerosis, lacunar infarcts and the deposition of granular osmiophilic material. Based on the hypothesis that the gliovascular unit is compromised, we assessed the nature of astrocyte damage in the deep WM of CADASIL subjects. Methods We evaluated post-mortem brains from CADASIL, cerebral small vessel disease, similar age cognitively normal and older control subjects...
May 14, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29725820/cadasil-brain-vessels-show-a-htra1-loss-of-function-profile
#3
Andreas Zellner, Eva Scharrer, Thomas Arzberger, Chio Oka, Valérie Domenga-Denier, Anne Joutel, Stefan F Lichtenthaler, Stephan A Müller, Martin Dichgans, Christof Haffner
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and a phenotypically similar recessive condition (CARASIL) have emerged as important genetic model diseases for studying the molecular pathomechanisms of cerebral small vessel disease (SVD). CADASIL, the most frequent and intensely explored monogenic SVD, is characterized by a severe pathology in the cerebral vasculature including the mutation-induced aggregation of the Notch3 extracellular domain (Notch3ECD ) and the formation of protein deposits of insufficiently determined composition in vessel walls...
May 3, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29706439/recognition-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil-in-two-oligosymptomatic-sisters-with-low-cadasil-scale-scores-and-a-venous-dysplasia-report-of-a-novel-greek-family
#4
George P Paraskevas, Vasilios C Constantinides, Christos Yapijakis, Evangelia Kararizou, Elisabeth N Kapaki, Anastasia Bougea
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) due to mutations of the NOTCH3 gene is the most common cause of inherited cerebral small-vessel disease and one of the genetic causes of migraine with aura. The so-called CADASIL scale has been proposed as a clinical screening tool, and a score of 15 or higher seems useful in identifying patients with high probability of carrying NOTCH3 mutations. We studied a novel Greek family with clinical features compatible with CADASIL...
April 26, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29700822/genetic-analysis-of-adult-leukoencephalopathy-patients-using-a-custom-designed-gene-panel
#5
M Kunii, H Doi, Y Ishii, C Ohba, K Tanaka, M Tada, R Fukai, S Hashiguchi, H Kishida, N Ueda, Y Kudo, C Kugimoto, T Nakano, N Udaka, S Miyatake, N Miyake, H Saitsu, Y Ito, K Takahashi, H Nakamura, A Tomita-Katsumoto, H Takeuchi, S Koyano, N Matsumoto, F Tanaka
Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs clinical management of these patients, but a large part of the genetic contribution to adult leukoencephalopathy remains unresolved. To examine this genetic contribution, we analyzed genomic DNA from 60 Japanese patients with adult leukoencephalopathy of unknown cause by next generation sequencing using a custom-designed gene panel. We selected 55 leukoencephalopathy-related genes for the gene panel...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29607917/-cadasil-with-cysteine-sparing-notch3-mutation-manifesting-as-dissociated-progression-between-cognitive-impairment-and-brain-image-findings-in-3-years-a-case-report
#6
Keisuke Tachiyama, Yuji Shiga, Yutaka Shimoe, Ikuko Mizuta, Toshiki Mizuno, Masaru Kuriyama
A 55-year-old man with no history of stroke or migraine presented to the clinic with cognitive impairment and depression that had been experiencing for two years. Neurological examination showed bilateral pyramidal signs, and impairments in cognition and attention. Brain MRI revealed multiple lacunar lesions and microbleeds in the deep cerebral white matter, subcortical regions, and brainstem, as well as diffuse white matter hyperintensities without anterior temporal pole involvement. Cerebral single-photon emission computed tomography (SPECT) revealed bilateral hypoperfusion in the basal ganglia...
March 31, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29600389/a-novel-frameshift-variant-in-the-cadasil-gene-notch3-pathogenic-or-not
#7
V Schubert, B Bender, M Kinzel, N Peters, T Freilinger
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) represents the most common monogenic cause of adult-onset ischemic stroke and vascular dementia. It is caused by heterozygous missense mutations in the NOTCH3 gene, encoding a transmembrane receptor protein on vascular smooth muscle cells. Classical CADASIL mutations affect conserved cysteine residues of the Notch3 protein. By contrast, the role of non-canonical genetic variation in NOTCH3, in particular of variants causing a hypomorphic Notch3 protein, is subject to an ongoing scientific debate...
March 29, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29561953/heterozygous-htra1-missense-mutation-in-cadasil-like-family-disease
#8
Xiaowei Wu, Changxin Li, Jinming Mao, Ling Li, Yan Liu, Yao Hou
The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations...
March 15, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29536621/differences-in-proliferation-rate-between-cadasil-and-control-vascular-smooth-muscle-cells-are-related-to-increased-tgf%C3%AE-expression
#9
Mahmod Panahi, Naeimeh Yousefi Mesri, Eva-Britt Samuelsson, Kirsten G Coupland, Charlotte Forsell, Caroline Graff, Saara Tikka, Bengt Winblad, Matti Viitanen, Helena Karlström, Erik Sundström, Homira Behbahani
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial fatal progressive degenerative disorder. One of the pathological hallmarks of CADASIL is a dramatic reduction of vascular smooth muscle cells (VSMCs) in cerebral arteries. Using VSMCs from the vasculature of the human umbilical cord, placenta and cerebrum of CADASIL patients, we found that CADASIL VSMCs had a lower proliferation rate compared to control VSMCs. Exposure of control VSMCs and endothelial cells (ECs) to media derived from CADASIL VSMCs lowered the proliferation rate of all cells examined...
March 13, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29500468/rnf213-related-susceptibility-of-japanese-cadasil-patients-to-intracranial-arterial-stenosis
#10
Wing Tung Esther Yeung, Ikuko Mizuta, Akiko Watanabe-Hosomi, Akiyoshi Yokote, Takashi Koizumi, Mao Mukai, Masako Kinoshita, Tomoyuki Ohara, Toshiki Mizuno
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracranial arteries has occasionally been reported. Recent studies identified a close association between the c.14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial arterial stenosis (ICAS). To determine whether RNF213 is associated with ICAS in CADASIL, we genotyped rs112735431 for 124 patients with CADASIL...
May 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29478611/cadasil
#11
Michael M Wang
Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3. The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29460913/-migraine-masks-differential-diagnosis-of-acute-headache
#12
A V Sergeev
Differential diagnosis of migraine, can be difficult, especially of migraine with aura. On the one hand, some diseases can produce symptoms similar to migraine (cerebral aneurysm before rupture, reversible cerebral vasoconstriction syndrome). On the other hand, migraine with aura and some other disorders are conditions that have common pathophysiological mechanisms (e.g., CADASIL and MELAS syndrome, antiphospholipid syndrome). Thirdly, clinical presentations of migraine are often difficult to distinguish from features of other headache conditions (migraine with aura - transient ischemic attack, migraine with visual aura - occipital epilepsy)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29449082/multiple-sclerosis-or-inflammatory-cadasil-case-report-and-review-of-the-literature
#13
N Schiess, K Huether, M Szolics, G Agarwal, A W El-Hattab, S Sathe
BACKGROUND: Multiple sclerosis (MS) and CADASIL presenting together is exceedingly rare. As more cases of "inflammatory" CADASIL emerge, diagnostic challenges for clinicians increase. We report an individual with MS and CADASIL presenting with cognitive decline at age 25. She presented with gadolinium enhancing lesions on MRI and inflammatory cerebrospinal fluid raising the question of whether these patients should be given a diagnosis of "inflammatory CADASIL" or both MS and CADASIL...
February 8, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29445441/potential-new-cysteine-sparing-mutation-in-the-notch3-gene-in-a-patient-with-nonfamilial-cadasil-like-disease
#14
Adnan I Qureshi, Muhammad T Khan, Omer Naveed, Muhammad A Saleem
Background: Several different mutations have been reported in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We present a unique case with transversion not involving cysteine on neurogenic locus notch homolog protein 3 gene. Case description: We present a case of 65-year-old woman with new ischemic stroke resulting in right hemiparesis. She has previously suffered minor strokes at age 56, 58, and 60 years and migraine headaches between age 10 and 50 years...
December 2017: Journal of Vascular and Interventional Neurology
https://www.readbyqxmd.com/read/29414412/generation-and-characterization-of-the-human-ipsc-line-idisi001-a-isolated-from-blood-cells-of-a-cadasil-patient-carrying-a-notch3-mutation
#15
Héctor Fernández-Susavila, Cristina Mora, Marta Aramburu-Núñez, Rita Quintas-Rey, Susana Arias, Manuel Collado, Esteban López-Arias, Tomás Sobrino, José Castillo, Patrizia Dell'Era, Francisco Campos
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder. It is caused by mutations in NOTCH3 that lead to progressive degeneration of the smooth muscle cells in blood vessels. There is currently no treatment for this disorder. We reprogrammed to pluripotency blood mononuclear cells isolated from a patient carrying a NOTCH3 mutation by using a commercially available non-integrating system. The success in the generation of this iPSC line (IDISi001-A) suggests that the NOTCH3 mutation did not limit cell reprogramming and offers an unprecedented opportunity for studying and modeling CADASIL pathology...
April 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29400120/clinical-correlates-of-longitudinal-mri-changes-in-cadasil
#16
Yifeng Ling, François De Guio, Eric Jouvent, Marco Duering, Dominique Hervé, Jean Pierre Guichard, Ophélia Godin, Martin Dichgans, Hugues Chabriat
Previous studies showed that various types of cerebral lesions, as assessed on MRI, largely contribute to the clinical severity of CADASIL. However, the clinical impact of longitudinal changes of classical markers of small vessel disease on conventional MRI has been only poorly investigated. One hundred sixty NOTCH3 mutation carriers (mean age ± SD, 49.8 ± 10.9 years) were followed over three years. Validated methods were used to determine the percent brain volume change (PBVC), number of incident lacunes, change of volume of white matter hyperintensities and change of number of cerebral microbleeds...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29380913/review-vascular-dementia-clinicopathologic-and-genetic-considerations
#17
REVIEW
H V Vinters, C Zarow, E Borys, J D Whitman, S Tung, W G Ellis, L Zheng, H C Chui
The incidence and severity of cerebrovascular disease (CVD) increase with advancing age, as does the risk of developing Alzheimer's disease (AD). Not surprisingly, heterogeneous forms of CVD may coexist with AD changes in the 'ageing brain'. These include angiopathies (affecting both large and small arteries) that result from 'classical' risk factors (hypertension, smoking and diabetes) and others (cerebral amyloid angiopathy) that are biochemically closely linked to AD. The morphologic consequences of these various vascular diseases are infarcts and/or haemorrhages of varying sizes within the brain, which lead to neurocognitive decline that may mimic AD - though the vascular abnormalities are usually detectable by neuroimaging...
April 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29374313/-importance-of-virchow-robin-spaces
#18
REVIEW
W Reith, A Haußmann
Virchow-Robin spaces are perivascular fluid-filled cavities that surround perforating arteries and veins in the brain parenchyma. As a rule in healthy people they are approximately 5 mm in diameter. Typical localizations are brainstem ganglia, mesencephalon and the white matter of the brain. Morphological imaging characteristics of Virchow-Robin spaces are round or tubular, smoothly bordered areas which are hyperintense in T2-weighted sequences. Virchow-Robin spaces represent a physiological structure in normal brain parenchyma...
February 2018: Der Radiologe
https://www.readbyqxmd.com/read/29370179/location-number-and-factors-associated-with-cerebral-microbleeds-in-an-italian-british-cohort-of-cadasil-patients
#19
Serena Nannucci, Valentina Rinnoci, Giovanni Pracucci, Andrew D MacKinnon, Francesca Pescini, Poneh Adib-Samii, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Domenico Inzitari, Hugh S Markus, Leonardo Pantoni
BACKGROUND AND PURPOSE: The frequency, clinical correlates, and risk factors of cerebral microbleeds (CMB) in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) are still poorly known. We aimed at determining the location and number of CMB and their relationship with clinical manifestations, vascular risk factors, drugs, and other neuroimaging features in CADASIL patients. METHODS: We collected clinical data by means of a structured proforma and centrally evaluated CMB on magnetic resonance gradient echo sequences applying the Microbleed Anatomical Rating Scale in CADASIL patients seen in 2 referral centers in Italy and United Kingdom...
2018: PloS One
https://www.readbyqxmd.com/read/29354215/the-role-of-biopsies-and-autopsies-in-the-diagnosis-of-cognitive-impairment-with-emphasis-on-small-vessel-diseases-a-critical-appraisal-enriched-by-personal-experience
#20
Leila Chimelli
Acquired and hereditary microangiopathies cause cerebral small vessel diseases (CSVD) that impair cognition. The most frequent is primary angiitis of the CNS (PACNS), whose diagnosis remains challenging, requiring a multidisciplinary approach. Secondary vasculitis, CADASIL, miscellaneous microangiopathies and lymphomas, also cause cognitive impairment. Despite the fact that the need for biopsy has decreased in the era of new neuroimaging methods, biopsies that include small leptomeningeal and parenchymal arterial vessels still remain the gold standard to diagnose PACNS and other CSVD, and to exclude mimics such as infections and malignancies...
October 2017: Dementia & Neuropsychologia
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