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Cerebral Cavernous Malformations

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https://www.readbyqxmd.com/read/27915116/7t-mr-of-intracranial-pathology-preliminary-observations-and-comparisons-to-3t-and-1-5t
#1
Emmanuel C Obusez, Mark Lowe, Se-Hong Oh, Irene Wang, M S Jennifer Bullen, Paul Ruggieri, Virginia Hill, Daniel Lockwood, Todd Emch, Doksu Moon, Gareth Loy, Jonathan Lee, Matthew Kiczek, D O Manoj Massand, Volodymyr Statsevych, Todd Stultz, Stephen E Jones
PURPOSE: There have been an increasing number of studies involving ultra-high-field 7T of intracranial pathology, however, comprehensive clinical studies of neuropathology at 7T still remain limited. 7T has the advantage of a higher signal-to-noise ratio and a higher contrast-to-noise ratio, compared to current low field clinical MR scanners. We hypothesized 7T applied clinically, may improve detection and characterization of intracranial pathology. MATERIALS AND METHODS: We performed an IRB-approved 7T prospective study of patients with neurological disease who previously had lower field 3T and 1...
November 30, 2016: NeuroImage
https://www.readbyqxmd.com/read/27896269/cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#2
REVIEW
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged "cavernous" endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27879448/rhoa-kinase-inhibition-with-fasudil-versus-simvastatin-in-murine-models-of-cerebral-cavernous-malformations
#3
Robert Shenkar, Changbin Shi, Cecilia Austin, Thomas Moore, Rhonda Lightle, Ying Cao, Lingjiao Zhang, Meijing Wu, Hussein A Zeineddine, Romuald Girard, David A McDonald, Autumn Rorrer, Carol Gallione, Peter Pytel, James K Liao, Douglas A Marchuk, Issam A Awad
BACKGROUND AND PURPOSE: We sought to compare the effect of chronic treatment with commonly tolerated doses of Fasudil, a specific RhoA kinase (ROCK) inhibitor, and simvastatin (with pleiotropic effects including ROCK inhibition) on cerebral cavernous malformation (CCM) genesis and maturation in 2 models that recapitulate the human disease. METHODS: Two heterozygous murine models, Ccm1(+/-)Msh2(-)(/-) and Ccm2(+/-)Trp53(-/-), were treated from weaning to 4 to 5 months of age with Fasudil (100 mg/kg per day), simvastatin (40 mg/kg per day) or with placebo...
November 22, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27834594/clinical-course-of-untreated-thalamic-cavernous-malformations-hemorrhage-risk-and-neurological-outcomes
#4
Kai-Bing Tian, Jing-Jie Zheng, Jun-Peng Ma, Shu-Yu Hao, Liang Wang, Li-Wei Zhang, Zhen Wu, Jun-Ting Zhang, Da Li
OBJECTIVE The natural history of cerebral cavernous malformations (CMs) has been widely studied, but the clinical course of untreated thalamic CMs is largely unknown. Hemorrhage of these lesions can be devastating. The authors undertook this study to obtain a prospective hemorrhage rate and provide a better understanding of the prognosis of untreated thalamic CMs. METHODS This longitudinal cohort study included patients with thalamic CMs who were diagnosed between 2000 and 2015. Clinical data were recorded, radiological studies were extensively reviewed, and follow-up evaluations were performed...
November 11, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27816341/stroke-prevention
#5
Clothilde Isabel, David Calvet, Jean-Louis Mas
Patients who have had a stroke are at high risk for recurrent stroke, myocardial infarction, and vascular death. Prevention of these events should be initiated promptly after stroke, because many recurrent events occur early, and should be tailored to the precise cause of stroke, which may require specific treatment. Lifestyle advice including abstinence from smoking, regular exercise, Mediterranean-style diet, and reduction of salt intake and alcohol consumption are recommended for all patients with stroke...
November 3, 2016: La Presse Médicale
https://www.readbyqxmd.com/read/27807006/rho-binding-to-fam65a-regulates-golgi-reorientation-during-cell-migration
#6
Faraz K Mardakheh, Annette Self, Christopher J Marshall
Directional cell migration involves reorientation of the secretory machinery. However, the molecular mechanisms which control this reorientation are not well characterised. Here we identify a novel Rho effector protein, named FAM65A, which binds to active RHOA, RHOB, and RHOC. FAM65A links RHO proteins to Golgi localising Cerebral Cavernous Malformation-3 protein (CCM3), and its interactors the Mammalian STE20-like protein kinases 3 and 4 (MST3 and MST4). Binding of active RHO proteins to FAM65A does not affect the kinase activity of MSTs, but results in their relocation from the Golgi apparatus in a CCM3 dependent manner...
November 2, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27797778/network-based-analysis-of-omics-data-the-lean-method
#7
Frederik Gwinner, Gwénola Boulday, Claire Vandiedonck, Minh Arnould, Cécile Cardoso, Iryna Nikolayeva, Oriol Guitart-Pla, Cécile V Denis, Olivier D Christophe, Johann Beghain, Elisabeth Tournier-Lasserve, Benno Schwikowski
MOTIVATION: Most computational approaches for the analysis of omics data in the context of interaction networks have very long running times, provide single or partial, often heuristic, solutions, and/or contain user-tuneable parameters. RESULTS: We introduce local enrichment analysis (LEAN) for the identification of dysregulated subnetworks from genome-wide omics data sets. By substituting the common subnetwork model with a simpler local subnetwork model, LEAN allows exact, parameter-free, efficient, and exhaustive identification of local subnetworks that are statistically dysregulated, and directly implicates single genes for follow-up experiments...
October 26, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#8
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27790124/cerebral-cavernous-malformation-a-portuguese-family-with-a-novel-ccm1-mutation
#9
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista
INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27766163/krit1-mutations-in-three-japanese-pedigrees-with-hereditary-cavernous-malformation
#10
Kengo Hirota, Hiroyuki Akagawa, Asami Kikuchi, Hideki Oka, Akihiko Hino, Tetsuryu Mitsuyama, Toshiyuki Sasaki, Hideaki Onda, Takakazu Kawamata, Hidetoshi Kasuya
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27737651/ccm3-serpini1-bidirectional-promoter-variants-in-patients-with-cerebral-cavernous-malformations-a-molecular-and-functional-study
#11
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D'Angelo
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions have been reported and are indeed genetic cases with a de novo mutation or a mutation inherited from an asymptomatic parent...
October 13, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27722904/genetically-diagnosed-birt-hogg-dub%C3%A3-syndrome-and-familial-cerebral-cavernous-malformations-in-the-same-individual-a-case-report
#12
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
October 8, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27708576/a-novel-ccm2-gene-mutation-associated-with-familial-cerebral-cavernous-malformation
#13
Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27694117/radiation-induced-cerebral-vascular-malformations-at-biopsy
#14
B K Kleinschmidt-DeMasters, Kevin O Lillehei
Radiation-induced vascular "malformations", designated cavernous hemangiomas/cavernomas ("RICHs"), are seldom biopsied and are usually diagnosed based on neuroimaging features. They are an increasingly recognized complication of both CNS external beam radiation therapy and stereotactic radiosurgery. We identified 13 patients with radiation-induced vascular "malformations" in our surgical neuropathology databases searched from 2000 to 2016; 4 had received their therapy during childhood; 5 had received radiosurgery...
September 30, 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27660100/the-relation-between-angioarchitectural-factors-of-developmental-venous-anomaly-and-concomitant-sporadic-cavernous-malformation
#15
Tengfei Yu, Xing Liu, Xiangjiang Lin, Chuanfeng Bai, Jizong Zhao, Junting Zhang, Liwei Zhang, Zhen Wu, Shuo Wang, Yuanli Zhao, Guolu Meng
BACKGROUND: Past studies found that cerebral developmental venous anomaly (DVA) is often concurrent with cavernous malformation (CM). But the reason of the concurrency remains unknown. The purpose of this study was to confirm whether angioarchitectural factors relate to the concurrence and which angioarchitectural factors can induce the concurrency. METHODS: DVA cases were selected from the records of the same 3.0 T MR. The DVA cases was divided into two group which are DVA group and DVA concurrent with CM group...
2016: BMC Neurology
https://www.readbyqxmd.com/read/27651861/systemic-expression-of-vascular-endothelial-growth-factor-in-patients-with-cerebral-cavernous-malformation-treated-by-stereotactic-radiosurgery
#16
Sang-Jin Park, Seong-Hyun Park
OBJECTIVE: Increased expression of angiogenic factors, such as vascular endothelial growth factor (VEGF), is associated with the pathogenesis of cerebral cavernous malformations (CCMs). The purpose of this study was to investigate plasma levels of VEGF in normal subjects and in patients with CCM and to evaluate change in these levels following stereotactic radiosurgery (SRS). METHODS: Peripheral venous blood was collected from 6 patients with CCM before SRS using Gamma Knife and at the 1 week, 1 month, 3month, and 6 month follow-up visits...
September 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27649701/identification-of-a-novel-deletion-mutation-c-1780delg-and-a-novel-splice-site-mutation-c-1412-1g-a-in-the-ccm1-krit1-gene-associated-with-familial-cerebral-cavernous-malformation-in-the-chinese-population
#17
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
September 20, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27639680/oxidative-stress-and-inflammation-in-cerebral-cavernous-malformation-disease-pathogenesis-two-sides-of-the-same-coin
#18
Saverio Francesco Retta, Angela J Glading
Cerebral Cavernous Malformation (CCM) is a vascular disease of proven genetic origin, which may arise sporadically or is inherited as an autosomal dominant condition with incomplete penetrance and highly variable expressivity. CCM lesions exhibit a range of different phenotypes, including wide inter-individual differences in lesion number, size, and susceptibility to intracerebral hemorrhage (ICH). Lesions may remain asymptomatic or result in pathological conditions of various type and severity at any age, with symptoms ranging from recurrent headaches to severe neurological deficits, seizures, and stroke...
September 14, 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27603130/dysregulated-exocytosis-of-angiopoietin-2-drives-cerebral-cavernous-malformation
#19
Helong Zhao, Tara M Mleynek, Dean Y Li
No abstract text is available yet for this article.
September 7, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27587990/fam222b-is-not-a-likely-novel-candidate-gene-for-cerebral-cavernous-malformations
#20
Stefanie Spiegler, Bettina Kirchmaier, Matthias Rath, G Christoph Korenke, Fabian Tetzlaff, Maartje van de Vorst, Kornelia Neveling, Amparo Acker-Palmer, Andreas W Kuss, Christian Gilissen, Andreas Fischer, Stefan Schulte-Merker, Ute Felbor
Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3...
July 2016: Molecular Syndromology
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