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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
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...
March 2, 2018: Journal of Human Genetics
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
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
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
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
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...
January 31, 2018: Stem Cell Research
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
Harry V Vinters, Chris Zarow, Ewa Borys, Jeffrey D Whitman, Spencer Tung, William G Ellis, Ling Zheng, Helena C Chui
The incidence and severity of cerebrovascular disease (CVD) increase with advancing age, as does the risk of developing Alzheimer disease (AD). Not surprisingly, heterogeneous forms of CVD may coexist with AD changes in the 'aging brain'. These include angiopathies (affecting both large and small arteries) that result from 'classical' risk factors (hypertension, smoking, 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...
January 30, 2018: Neuropathology and Applied Neurobiology
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...
January 26, 2018: Der Radiologe
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
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
Masayo Koide, Arash Moshkforoush, Nikolaos M Tsoukias, David C Hill-Eubanks, George C Wellman, Mark T Nelson, Fabrice Dabertrand
Cerebral small vessel diseases (SVDs) encompass a group of genetic and sporadic pathological processes leading to brain lesions, cognitive decline, and stroke. There is no specific treatment for SVDs, which progress silently for years before becoming clinically symptomatic. Here, we examine parallels in the functional defects of parenchymal arterioles in CADASIL, a monogenic form of SVD, and in response to subarachnoid hemorrhage, a common type of hemorrhagic stroke that also targets the brain microvasculature...
December 15, 2017: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
Lauren Wallaert, Akifumi Hagiwara, Christina Andica, Masaaki Hori, Kazuo Yamashiro, Saori Koshino, Tomoko Maekawa, Koji Kamagata, Shigeki Aoki
No abstract text is available yet for this article.
December 12, 2017: Magnetic Resonance in Medical Sciences: MRMS
Zhixia Ren, Shuai Chen, Yingying Shi, Yuanxing Zhang, Wan Wang, Zuzhi Chen, Mingrong Xia, Xiaohong Shi, Jiewen Zhang
OBJECTIVE: To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms. METHODS: Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing. RESULTS: The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Qiying Sun, Wenwen Li, Yafang Zhou, Fang Yi, Jianfeng Wang, Yacen Hu, Lingyan Yao, Lin Zhou, Hongwei Xu
OBJECTIVE: To analyze potential mutations of the NOTCH3 gene in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL). METHODS: The two probands and related family members and 100 healthy controls were recruited. Potential mutations of the NOTCH3 gene were screened by PCR and direct sequencing. PolyPhen-2 and SIFT software were used to predict the protein function. RESULTS: The conditions of both probands were adult-onset, with main clinical features including recurrent transient ischemic attacks and/or strokes, cognitive impairment...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Scott J Adams, Andrew Kirk, Roland N Auer
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity...
November 6, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Dimitri Renard, Nicolas Menjot de Champfleur
No abstract text is available yet for this article.
November 7, 2017: Acta Neurologica Belgica
Ikuko Mizuta, Akiko Watanabe-Hosomi, Takashi Koizumi, Mao Mukai, Ai Hamano, Yasuhiro Tomii, Masaki Kondo, Masanori Nakagawa, Hidekazu Tomimoto, Teruyuki Hirano, Makoto Uchino, Osamu Onodera, Toshiki Mizuno
PURPOSE: Definite diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy (CADASIL) is mostly done by identification of NOTCH3 mutations. We aimed to develop criteria for selecting patients suspected for CADASIL to undergo genetic testing. SUBJECTS AND METHODS: All subjects were Japanese. We recruited CADASIL patients genetically diagnosed up until 2011 (n=37, Group 1) or after 2011 (n=65, Group 2), 67 young stroke patients (≤55 years old), and 53 NOTCH3-negative CADASIL-like patients...
October 15, 2017: Journal of the Neurological Sciences
Isidro Ferrer, Noemi Vidal
The chapter describes the epidemiology of cerebrovascular diseases, anatomy of the cerebral blood vessels, pathophysiology of ischemia, hypoxia, hypoxemia, anemic hypoxia, histotoxic hypoxia, carbon monoxide damage, hyperoxid brain damage and decompression sickness, and selective cell and regional vulnerability; diseases of the blood vessels including atherosclerosis, hypertensive angiopathy, small vessel disease, inflammatory vascular diseases, cerebral amyloid angiopathies, CADASIL, CARASIL and other diseases that can lead to cerebrovascular occlusion; intracranial and intraspinal aneurysms and vascular malformations; hematologic disorders that can cause cerebral infarct or hemorrhage; brain ischemic damage; and spontaneous intracranial bleeding...
2017: Handbook of Clinical Neurology
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