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https://www.readbyqxmd.com/read/28912283/reaction-time-is-negatively-associated-with-corpus-callosum-area-in-the-early-stages-of-cadasil
#1
S Delorme, F De Guio, S Reyes, A Jabouley, H Chabriat, E Jouvent
BACKGROUND AND PURPOSE: Reaction time was recently recognized as a marker of subtle cognitive and behavioral alterations in the early clinical stages of CADASIL, a monogenic cerebral small-vessel disease. In unselected patients with CADASIL, brain atrophy and lacunes are the main imaging correlates of disease severity, but MR imaging correlates of reaction time in mildly affected patients are unknown. We hypothesized that reaction time is independently associated with the corpus callosum area in the early clinical stages of CADASIL...
September 14, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28902129/systematic-review-of-cysteine-sparing-notch3-missense-mutations-in-patients-with-clinical-suspicion-of-cadasil
#2
REVIEW
Elena Muiño, Cristina Gallego-Fabrega, Natalia Cullell, Caty Carrera, Nuria Torres, Jurek Krupinski, Jaume Roquer, Joan Montaner, Israel Fernández-Cadenas
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations in the NOTCH3 gene, affecting the number of cysteines in the extracellular domain of the receptor, causing protein misfolding and receptor aggregation. The pathogenic role of cysteine-sparing NOTCH3 missense mutations in patients with typical clinical CADASIL syndrome is unknown. The aim of this article is to describe these mutations to clarify if any could be potentially pathogenic. Articles on cysteine-sparing NOTCH3 missense mutations in patients with clinical suspicion of CADASIL were reviewed...
September 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28867359/novel-heterozygous-notch3-pathogenic-variant-found-in-two-chinese-patients-with-cadasil
#3
Shufeng Li, Yifan Chen, Haitao Shan, Fang Ma, Minke Shi, Jun Xue
NOTCH3 mutations have been described to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Here, we report 2 CADASIL patients from a Chinese family. Whole genome sequencing was performed on the two CADASIL patients. The novel variant c.128G>C in exon 2 of NOTCH3 was identified and confirmed through PCR-Sanger sequencing (Human Genome Variation Society nomenclature: HGVS: NOTCH3 c.128G>C; p.Cys43Ser). The heterozygous NOTCH3 variant cause a cysteine to serine substitution at codon 43...
August 31, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28860774/bipolar-ii-disorder-as-the-initial-presentation-of-cadasil-an-underdiagnosed-manifestation
#4
Jianjun Wang, Jinfang Li, Fanxin Kong, Hanqing Lv, Zhouke Guo
Mood disturbances have been documented in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The highly varied morbidity indicates that the affective symptoms in CADASIL have not been cataloged systematically, leading to ineffective treatment, affecting the patients' quality of life, and possibly resulting in suicide. We present a case of CADASIL with bipolar II disorder as the first manifestation. A middle-aged female reported recurrent depressive episodes and appeared treatment resistant to adequate dosages and durations of antidepressants...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28842512/cerebral-microbleeds-and-the-risk-of-incident-ischemic-stroke-in-cadasil-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#5
Laurent Puy, François De Guio, Ophélia Godin, Marco Duering, Martin Dichgans, Hugues Chabriat, Eric Jouvent
BACKGROUND AND PURPOSE: Cerebral microbleeds are associated with an increased risk of intracerebral hemorrhage. Recent data suggest that microbleeds may also predict the risk of incident ischemic stroke. However, these results were observed in elderly individuals undertaking various medications and for whom causes of microbleeds and ischemic stroke may differ. We aimed to test the relationship between the presence of microbleeds and incident stroke in CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy)-a severe monogenic small vessel disease known to be responsible for both highly prevalent microbleeds and a high incidence of ischemic stroke in young patients...
August 25, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28826581/uncommon-causes-of-cerebral-microbleeds
#6
REVIEW
Nariman Noorbakhsh-Sabet, Varun Chandi Pulakanti, Ramin Zand
BACKGROUND: Cerebral microbleeds (CMBs) are small and round perivascular hemosiderin depositions detectable by gradient echo sequences or susceptibility-weighted imaging. Cerebral microbleeds are common among patients with hypertension, cerebral ischemia, or cerebral amyloid angiopathy. In this article, we describe uncommon causes of CMBs. METHODS: We searched Pubmed with the keyword CMBs for relevant studies and looked for different uncommon causes of CMBs. RESULTS: CMBs have several uncommon etiologies including posterior reversible encephalopathy syndrome, infective endocarditis, brain radiation therapy, cocaine abuse, thrombotic thrombocytopenic purpura, traumatic brain injury, intravascular lymphomatosis or proliferating angio-endotheliomatosis, moyamoya disease, sickle cell anemia/β-thalassemia, cerebral autosomal dominant arteriopathy subcortical infarcts, and leukoencephalopathy (CADASIL), genetic syndromes, or obstructive sleep apnea...
August 17, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28782182/heterozygous-mutations-of-htra1-gene-in-patients-with-familial-cerebral-small-vessel-disease
#7
Ilaria Di Donato, Silvia Bianchi, Gian Nicola Gallus, Alfonso Cerase, Ilaria Taglia, Francesca Pescini, Serena Nannucci, Carla Battisti, Domenico Inzitari, Leonardo Pantoni, Andrea Zini, Antonio Federico, Maria Teresa Dotti
AIMS: Cerebral small vessel disease (SVD) is the leading cause of vascular dementia. Although the most of cases are sporadic, familial monogenic causes have been identified in a growing minority of patients. CADASIL, due to mutations of NOTCH3 gene, is the most common genetic SVD, and CARASIL, linked to HTRA1 gene mutations, is a rare but well known autosomal recessive SVD. Recently, also heterozygous HTRA1 mutations have been described in patients with familial SVD. To detect a genetic cause of familial SVD, we performed mutational analysis of HTRA1 gene in a large cohort of Italian NOTCH3-negative patients...
September 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28741120/cadasil-treatment-and-management-options
#8
REVIEW
Anna Bersano, Gloria Bedini, Joshua Oskam, Caterina Mariotti, Franco Taroni, Silvia Baratta, Eugenio Agostino Parati
CADASIL is a life-threatening and disabling disease. Despite the progress achieved so far, no therapies able to limit the disease progression have been found and only empiric treatments can be employed to relieve the main disease symptoms. Further in vivo studies as well as data aggregation and multi-centre controlled clinical trials are needed to confirm the emerging findings in order to identify evidence-based therapies for CADASIL.
September 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#9
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28716282/serum-amyloid-p-component-a-novel-potential-player-in-vessel-degeneration-in-cadasil
#10
Akihito Nagatoshi, Mitsuharu Ueda, Akihiko Ueda, Masayoshi Tasaki, Yasuteru Inoue, Yihong Ma, Teruaki Masuda, Mayumi Mizukami, Sayaka Matsumoto, Takayuki Kosaka, Takayuki Kawano, Takaaki Ito, Yukio Ando
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), granular osmiophilic material (GOM) may play some roles in inducing cerebrovascular events. To elucidate the pathogenesis of CADASIL, we used laser microdissection and liquid chromatography-tandem mass spectrometry to analyze cerebrovascular lesions of patients with CADASIL for GOM. The analyses detected serum amyloid P component (SAP), annexin A2, and periostin as the proteins with the largest increase in the samples, which also demonstrated NOTCH3...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28710804/clinical-features-and-mutation-spectrum-in-chinese-patients-with-cadasil-a-multicenter-retrospective-study
#11
Sheng Chen, Wang Ni, Xin-Zhen Yin, Han-Qiu Liu, Cong Lu, Qiao-Juan Zheng, Gui-Xian Zhao, Yong-Feng Xu, Lei Wu, Liang Zhang, Ning Wang, Hong-Fu Li, Zhi-Ying Wu
AIM: To characterize clinical features and mutation spectrum in Chinese patients with CADASIL. METHODS: We collected 261 clinically suspected Chinese CADASIL patients from three hospitals located in different regions of China. Sanger sequencing is performed to screen the exons 2 to 24 of NOTCH3 gene. Clinical and genetic data were retrospectively studied. Haplotype analyses were performed in patients carrying p.Arg544Cys and p.Arg607Cys, respectively. RESULTS: A total of 214 patients were finally genetically diagnosed as CADASIL, with 45 known NOTCH3 mutations and a novel c...
September 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28698285/therapeutic-antibody-targeting-of-notch3-signaling-prevents-mural-cell-loss-in-cadasil
#12
Arturo I Machuca-Parra, Alexander A Bigger-Allen, Angie V Sanchez, Anissa Boutabla, Jonathan Cardona-Vélez, Dhanesh Amarnani, Magali Saint-Geniez, Christian W Siebel, Leo A Kim, Patricia A D'Amore, Joseph F Arboleda-Velasquez
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurological syndrome characterized by small vessel disease (SVD), stroke, and vascular cognitive impairment and dementia caused by mutations in NOTCH3 No therapies are available for this condition. Loss of mural cells, which encompass pericytes and vascular smooth muscle cells, is a hallmark of CADASIL and other SVDs, including diabetic retinopathy, resulting in vascular instability. Here, we showed that Notch3 signaling is both necessary and sufficient to support mural cell coverage in arteries using genetic rescue in Notch3 knockout mice...
August 7, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28679849/mendelian-genes-and-risk-of-intracerebral-hemorrhage-and-small-vessel-ischemic-stroke-in-sporadic-cases
#13
Michael Chong, Martin O'Donnell, Vincent Thijs, Antonio Dans, Patricio López-Jaramillo, Diego Gómez-Arbeláez, Charles Mondo, Anna Czlonkowska, Marta Skowronska, Shahram Oveisgharan, Salim Yusuf, Guillaume Paré
BACKGROUND AND PURPOSE: Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. METHODS: We sequenced 8 genes responsible for Mendelian stroke in a case-control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World)...
August 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28617385/-differential-diagnosis-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#14
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
#15
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
#16
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...
July 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
#17
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
#18
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
#19
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
#20
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
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