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https://www.readbyqxmd.com/read/29122458/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-integrating-the-literature-on-hereditary-diffuse-leukoencephalopathy-with-spheroids-hdls-and-pigmentary-orthochromatic-leukodystrophy-pold
#1
REVIEW
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
https://www.readbyqxmd.com/read/29116570/mri-hydrographic-3d-sequences-myotonic-dystrophy-type-1-meets-cadasil
#2
Dimitri Renard, Nicolas Menjot de Champfleur
No abstract text is available yet for this article.
November 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28991717/new-diagnostic-criteria-for-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukocencephalopathy-in-japan
#3
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
https://www.readbyqxmd.com/read/28987197/neuropathology-of-cerebrovascular-diseases
#4
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
https://www.readbyqxmd.com/read/28921817/diagnostic-criteria-for-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-due-to-csf1r-mutation
#5
Takuya Konno, Kunihiro Yoshida, Ikuko Mizuta, Toshiki Mizuno, Toshitaka Kawarai, Masayoshi Tada, Hiroaki Nozaki, Shu-Ichi Ikeda, Osamu Onodera, Zbigniew K Wszolek, Takeshi Ikeuchi
BACKGROUND: To establish and validate diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony stimulating factor 1 receptor (CSF1R) mutation. METHODS: We developed diagnostic criteria for ALSP based on a recent analysis of the clinical characteristics of ALSP. These criteria provide "probable" and "possible" designations for patients who do not have a genetic diagnosis. To verify its sensitivity and specificity, we retrospectively applied our criteria to 83 ALSP cases who had CSF1R mutations (24 of these were analyzed at our institutions, and the others were identified from the literature), 53 cases who had CSF1R mutation-negative leukoencephalopathies, and 32 cases who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with NOTCH3 mutations...
September 18, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28912283/reaction-time-is-negatively-associated-with-corpus-callosum-area-in-the-early-stages-of-cadasil
#6
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
#7
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
#8
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...
December 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
#9
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
#10
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...
October 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28826581/uncommon-causes-of-cerebral-microbleeds
#11
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...
October 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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