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https://www.readbyqxmd.com/read/27895449/cadasil-presenting-with-spontaneous-intracerebral-hemorrhage-report-of-a-case-and-description-of-the-first-family-in-northern-greece
#1
I Koutroulou, T Karapanayiotides, N Grigoriadis, D Karacostas
INTRODUCTION: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), the most common inherited cause of stroke and dementia in adults, has been described in six Greek families. Common presenting manifestations include migraine with aura, brain ischemia, mood disorders and cognitive decline. Spontaneous intracerebral hemorrhage (SICH) rarely occurs in CADASIL and only exceptionally as the first clinical manifestation. CASE DESCRIPTION: We have previously reported the sixth Greek family with CADASIL and in particular, two brothers in whom the genetic testing documented a classic mutation of the NOTCH3 gene (Arg169Cys)...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27890607/genotype-phenotype-correlations-of-cysteine-replacement-in-cadasil
#2
Takashi Matsushima, Silvio Conedera, Ryota Tanaka, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Aya Ikeda, Yuka Hosaka, Ayame Okuzumi, Yoshiaki Shimada, Kazuo Yamashiro, Yumiko Motoi, Kenya Nishioka, Nobutaka Hattori
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by cerebral infarction related to mutations in the notch homolog protein 3 (NOTCH3). We enrolled 10 patients whose brain magnetic resonance imaging (MRI) fluid-attenuated inversion recovery images showed hyperintensities (HIs) in the deep white matter and the external capsule. We then investigated the mutations in NOTCH3 using direct sequencing within the region of intron-exon boundaries in exons 2-24 of NOTCH3...
November 2, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27881154/targeted-next-generation-sequencing-identifies-novel-notch3-gene-mutations-in-cadasil-diagnostics-patients
#3
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/27876311/circulating-biomarkers-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-patients
#4
Francesca Pescini, Ida Donnini, Francesca Cesari, Serena Nannucci, Raffaella Valenti, Valentina Rinnoci, Anna Poggesi, Anna Maria Gori, Betti Giusti, Angela Rogolino, Alessandra Carluccio, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Maurizio Balestrino, Enrico Adriano, Rosanna Abbate, Domenico Inzitari, Leonardo Pantoni
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microangiopathy presenting with variable features, including migraine, psychiatric disorders, stroke, and cognitive decline and variable disability. On neuroimaging, CADASIL is characterized by leukoencephalopathy, multiple lacunar infarcts, and microbleeds. Previous studies suggest a possible role of endothelial impairment in the pathogenesis of the disease...
November 18, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27844030/archetypal-notch3-mutations-frequent-in-public-exome-implications-for-cadasil
#5
Julie W Rutten, Hans G Dauwerse, Gido Gravesteijn, Martine J van Belzen, Jeroen van der Grond, James M Polke, Manuel Bernal-Quiros, Saskia A J Lesnik Oberstein
OBJECTIVE: To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. METHODS: ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), namely mutations leading to a cysteine amino acid change in one of the 34 EGFr domains of NOTCH3. The genotype-phenotype correlation predicted by the ExAC data was tested in an independent cohort of Dutch CADASIL patients using quantified MRI lesions...
November 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27830070/recurrent-transient-global-amnesia-as-presenting-symptoms-of-cadasil
#6
Luca Pradotto, Laura Orsi, Monica Mencarelli, Marcella Caglio, Danilo Lauro, Alessandra Milesi, Anna Di Blasio, Alessandro Mauro
Despite transient global amnesia is considered unusual in Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and causal relation is still unclear, this report suggests to consider CADASIL in those patients with recurrent transient global amnesia, especially when MRI shows multifocal hyperintensities affecting the cerebral white matter or when it is followed by cognitive decline.
November 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27821617/increased-notch3-activity-mediates-pathological-changes-in-structure-of-cerebral-arteries
#7
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...
November 7, 2016: Hypertension
https://www.readbyqxmd.com/read/27781952/a-novel-mutation-of-the-notch3-gene-in-a-chinese-pedigree-with-cadasil
#8
Xiaoxia Hou, Yudong Zhang, Hong Chen
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) results from NOTCH3 gene mutations, which lead to the degeneration of vascular smooth muscle cells (VSMCs). The clinical presentation of CADASIL patients is dependent on the impact of other vascular risk factors and the type of NOTCH3 mutation present. METHODS: Here, we report a rare pathogenic mutation on exon 14 of the NOTCH3 gene in a Chinese family affected by CADASIL with phenotypic peculiarities...
October 24, 2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27773545/cadasil-mimicking-multiple-sclerosis-the-importance-of-clinical-and-mri-red-flags
#9
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27725551/cadasil-presenting-as-acute-bilateral-multiple-subcortical-infarcts-without-a-characteristic-temporal-pole-or-any-external-capsule-lesions
#10
Takashi Ando, Yoji Goto, Kazuo Mano, Akihiko Ueda, Yukio Ando, Ikuko Mizuta, Toshiki Mizuno
A 37-year-old man was hospitalized for an evaluation of acute bilateral multiple subcortical infarcts. There were no specific signal abnormalities in the temporal pole or external capsule. An abdominal skin biopsy showed granular, electron-dense, osmiophilic material (GOM) in the smooth muscle cells on electron microscopy. A direct sequencing analysis of NOTCH3 revealed a heterozygous c.986G>A substitution in exon 6, resulting in a Cys329Tyr amino acid replacement. According to these findings, the patient was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencehalopathy (CADASIL)...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27712110/cadasil-and-multiple-sclerosis-a-case-report-of-prolonged-misdiagnosis
#11
Dominic A Carone
Cerebral autosomal dominant arteriopathy and subcortical ischemic leukoencephalopathy (CADASIL) is sometimes misdiagnosed as multiple sclerosis (MS). MS and CADASIL are not known to co-occur and brain magnetic resonance imagining (MRI) findings can help with differential diagnosis. Despite the availability of this information, a case report is presented of a 61-year-old woman who was misdiagnosed with MS at age 50, tested positive for CADASIL at age 56, described incorrectly as having both conditions simultaneously, and continued on MS disease-modifying medications, resulting in financial and physical hardship...
August 11, 2016: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/27704594/l-arginine-and-l-nmma-for-assessing-cerebral-endothelial-dysfunction-in-ischemic-cerebrovascular-disease-a-systematic-review
#12
William K Karlsson, Caspar G Sørensen, Christina Kruuse
Endothelial dysfunction (ED), in particular cerebral ED, may be an essential biomarker for ischemic cerebrovascular disease. However, there is no consensus on methods to best estimate cerebral ED. In this systematic review, we evaluate the use of L-arginine and N(G) -monomethyl-L-arginine (L-NMMA) for assessment of cerebral ED. A systematic search of PubMed, EMBASE and the Cochrane Library was done. We included studies investigating cerebrovascular response to L-arginine or L-NMMA in human subjects with vascular risk factors or ischemic cerebrovascular disease...
October 5, 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27694265/prediction-of-3-year-clinical-course-in-cadasil
#13
Eric Jouvent, Edouard Duchesnay, Foued Hadj-Selem, François De Guio, Jean-François Mangin, Dominique Hervé, Marco Duering, Stefan Ropele, Reinhold Schmidt, Martin Dichgans, Hugues Chabriat
OBJECTIVE: To obtain simple models predicting disease evolution at 3 years for a given patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). METHODS: Based on data obtained in a prospective study of 236 patients, we built and validated models predicting, at the individual level, 3-year changes in Mini-Mental State Examination (MMSE), Mattis Dementia Rating Scale (MDRS), Trail Making Test version B (TMTB), and modified Rankin Scale (mRS)...
October 25, 2016: Neurology
https://www.readbyqxmd.com/read/27664986/cadasil-carasil-carasal-the-linguistic-subtleties-of-cerebral-small-vessel-disease
#14
Christof Haffner, Harry V Vinters
No abstract text is available yet for this article.
October 25, 2016: Neurology
https://www.readbyqxmd.com/read/27642468/-nosographic-considerations-on-delusional-parasitosis-based-on-three-clinical-observations
#15
Nabil Berhili, Amine Bout, Hayat Hlal, Chadya Aarab, Rachid Aalouane, Ismail Rammouz
Ekbom syndrome or delusional parasitosis is a rare disease characterized by the unwavering conviction of having cutaneous infestation of insects or parasites. This is a monothematic delusion of hallucinatory origin that typically affects older women. We report the case of three patients with delusional parasitosis in different clinical settings. The first patient suffered from isolated delusional parasitosis corresponding to the condition described by Karl Ekbom. The second case suffered from secondary delusional parasitosis, occurring in the setting of leukoencephalopathy (CADASIL)...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27637962/cerebrovascular-disease
#16
M L P Portegies, P J Koudstaal, M A Ikram
With 16.9 million people who suffered a first-ever stroke in 2010 worldwide, stroke is a very common vascular disease. Epidemiologic studies have played an essential role in assessing this burden and in detecting the risk factors for stroke. Primary prevention of these risk factors, primarily hypertension, smoking, diabetes, and atrial fibrillation, has reduced the incidence in high-income countries. However, stroke remains a major cause of death and disability, and therefore research should be continued. Subarachnoid hemorrhages are less prevalent than strokes but have an even higher risk of death...
2016: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27625375/brief-screening-of-vascular-cognitive-impairment-in-patients-with-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-without-dementia
#17
Rebecca L Brookes, Matthew J Hollocks, Rhea Y Y Tan, Robin G Morris, Hugh S Markus
BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic form of cerebral small vessel disease leading to early-onset stroke and dementia, with younger patients frequently showing subclinical deficits in cognition. At present, there are no targeted cognitive screening measures for this population. However, the Brief Memory and Executive Test (BMET) and the Montreal Cognitive Assessment (MoCA) have shown utility in detecting cognitive impairment in sporadic small vessel disease...
October 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27618323/white-matter-diseases-with-radiologic-pathologic-correlation
#18
Nicolae Sarbu, Robert Y Shih, Robert V Jones, Iren Horkayne-Szakaly, Laura Oleaga, James G Smirniotopoulos
White matter diseases include a wide spectrum of disorders that have in common impairment of normal myelination, either by secondary destruction of previously myelinated structures (demyelinating processes) or by primary abnormalities of myelin formation (dysmyelinating processes). The pathogenesis of many white matter diseases remains poorly understood. Demyelinating disorders are the object of this review and will be further divided into autoimmune, infectious, vascular, and toxic-metabolic processes. Autoimmune processes include multiple sclerosis and related diseases: tumefactive demyelinating lesions, Balo concentric sclerosis, Marburg and Schilder variants, neuromyelitis optica (Devic disease), acute disseminated encephalomyelitis, and acute hemorrhagic leukoencephalopathy (Hurst disease)...
September 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27591799/cadasil-imaging-characteristics-and-clinical-correlation
#19
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
https://www.readbyqxmd.com/read/27476853/mechanistic-insights-into-a-timp3-sensitive-pathway-constitutively-engaged-in-the-regulation-of-cerebral-hemodynamics
#20
Carmen Capone, Fabrice Dabertrand, Celine Baron-Menguy, Athena Chalaris, Lamia Ghezali, Valérie Domenga-Denier, Stefanie Schmidt, Clément Huneau, Stefan Rose-John, Mark T Nelson, Anne Joutel
Cerebral small vessel disease (SVD) is a leading cause of stroke and dementia. CADASIL, an inherited SVD, alters cerebral artery function, compromising blood flow to the working brain. TIMP3 (tissue inhibitor of metalloproteinase 3) accumulation in the vascular extracellular matrix in CADASIL is a key contributor to cerebrovascular dysfunction. However, the linkage between elevated TIMP3 and compromised cerebral blood flow (CBF) remains unknown. Here, we show that TIMP3 acts through inhibition of the metalloprotease ADAM17 and HB-EGF to regulate cerebral arterial tone and blood flow responses...
August 1, 2016: ELife
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