Malformação vascular evolutiva rara, caracterizada por capilares dilatados irregulares e agrupados que podem ser assintomáticos ou causar manifestações neurológicas variáveis, como convulsões, dores de cabeça inespecíficas, déficits neurológicos focais progressivos ou transitórios e/ou hemorragias cerebrais.
Introdução
O que você precisa saber de cara
Malformação vascular evolutiva rara, caracterizada por capilares dilatados irregulares e agrupados que podem ser assintomáticos ou causar manifestações neurológicas variáveis, como convulsões, dores de cabeça inespecíficas, déficits neurológicos focais progressivos ou transitórios e/ou hemorragias cerebrais.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 34 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establi
Cytoplasm, cytoskeletonCell membraneCell junction
Cerebral cavernous malformations 1
A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM1 inheritance is autosomal dominant.
Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and STK26 activity (PubMed:27807006). Important for cell migration, and for normal structure and assembly of the Golgi complex (PubMed:27807006). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cyt
CytoplasmGolgi apparatus membraneCell membrane
Cerebral cavernous malformations 3
A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM3 inheritance is autosomal dominant.
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity)
Cytoplasm
Cerebral cavernous malformations 2
A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant.
Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators
Cerebral cavernous malformations 5
A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
Medicamentos e terapias
Mecanismo: Beta-1 adrenergic receptor antagonist
Variantes genéticas (ClinVar)
328 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
31 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Malformação cavernosa cerebral familiar
Centros de Referência SUS
24 centros habilitados pelo SUS para Malformação cavernosa cerebral familiar
Centros para Malformação cavernosa cerebral familiar
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
12 ensaios clínicos encontrados, 4 ativos.
Publicações mais relevantes
Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
Cerebral Cavernous malformations (CCM) are the second most common vascular malformation of the central nervous system accounting (CNS) for 5%-10% of vascular malformations in the CNS with a prevalence of 0.5%. Most CCM are supratentorial with fewer than 20% located in the brainstem, mostly in the pons but very rarely in the anterior mesencephalon. The optimal treatment strategy for anterior mesencephalic cerebral cavernous malformations (AMCCM) is still debatable. Up to 20% of CCM are familial with patients presenting with multiple CCM. We report the case of a 62 year-old female who presented with diplopia, gait disturbance and poor speech. No clinical improvement was noted after an initial treatment with steroids for a supposedly unidentified neuroinflammatory disease. When she later presented with impaired consciousness, aphasia, right abducens nerve palsy and left hemiparesia, an urgent brain MRI with gradient echo sequence revealed an obstructive hydrocephalus secondary to an anterior mesencephalic cerebral cavernous malformation with subacute hemorrhage (Zabramski type I) along with numerous CCM typical of familial cerebral cavernous malformation (FCCM) syndrome. The urgent insertion of a ventriculoperitoneal (VP) shunt allowed progressive recovery of a normal consciousness as well as a normal motor function in all 4 limbs, which enabled her to regain autonomous ambulation albeit with a broad-based gait. No CCM re-hemorrhage occurred after 9 months of follow-up. Obstructive hydrocephalus secondary to anterior mesencephalic cerebral cavernous malformations was treated with VP shunt without re-hemorrhage.
Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation.
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by a collection of thin-walled capillaries with slow blood flow, which are often identified incidentally on MRI. CCMs are the most common cerebral vascular malformation after developmental venous anomalies. Familial CCM (FCCM) is a rare autosomal dominant disorder characterized by several lesions throughout the central nervous system. We report the case of a 47-year-old female patient who presented to the neurology clinic with a chief complaint of transient dysphagia. An MRI of the brain without contrast, including susceptibility-weighted imaging (SWI), demonstrated numerous punctate foci of susceptibility-related signal loss throughout the cerebral and cerebellar hemispheres. Genetic testing revealed a pathogenic KRIT1 mutation, confirming FCCM. The patient's dysphagia resolved within one month of the initial onset and, fortunately, has not returned. This case highlights an atypical presentation of FCCM and the importance of an extensive workup in patients with unexplained neurologic symptoms.
Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Familial cerebral cavernous malformations (FCCM) are a heritable neurovascular disorder defined by clusters of dilated, thin-walled capillaries in the brain and spinal cord. Although rare, FCCM offers a tractable model for understanding how genetic disruptions in endothelial junction biology, mechanotransduction, and kinase signaling drive vascular instability in the central nervous system. Pathogenic loss-of-function variants converge on signaling abnormalities that promote barrier dysfunction, iron deposition, inflammation, and progressive lesional growth. Clinically, FCCM may manifest with seizures, headaches, focal deficits, or intracerebral hemorrhage, yet many carriers remain asymptomatic owing to incomplete and age-dependent penetrance. Advances in neuroimaging have enhanced the detection of micro-lesions and iron accumulation, establishing these modalities as central biomarkers of disease expression. Complementing imaging, emerging circulating biomarkers, including inflammatory cytokines and plasma microRNAs associated with mutation status, may improve individualized risk stratification. This primer synthesizes current knowledge on FCCM pathophysiology, genetics, diagnostic strategies, and therapeutic perspectives. By integrating molecular mechanisms with clinical relevance, it outlines a framework for understanding FCCM as a disorder of perturbed endothelial signaling and neurovascular homeostasis, and highlights opportunities to advance precision medicine for this challenging condition.
Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.
Familial cerebral cavernous malformations (fCCMs) are a rare genetic autosomal dominant cerebrovascular disease characterized by multiple cerebral and spinal angiomas. The condition is caused by mutations in KRIT1 (CCM1), CCM2 (malcavernin), or PDCD10 (CCM3) and may lead to intracerebral hemorrhage (ICH) or non-hemorrhagic focal neurological deficits (FNDs), potentially leading to severe disability and even death. To date, little is known about disease progression, and tools to identify patients at higher risk are lacking. Pediatric and adult fCCM patients, whether symptomatic or asymptomatic, will be enrolled and followed annually over a 2-year period. Participants will undergo clinical assessments, blood sampling, and 3 T brain MRI scans at baseline, 12 months, and 24 months. The primary outcome is the new occurrence of symptomatic ICH or FNDs attributable to CCMs over 24 months. Patient characteristics will be assessed for the primary and secondary endpoints and illustrated using Kaplan-Meier curves and Cox proportional hazard regressions. This trial is registered with ClinicalTrials.gov, NCT06983132 and is currently recruiting participants. Despite increasing efforts in basic and clinical research and an improved understanding of the pathogenic mechanisms underlying fCCM, tools to predict disease progression, identify at-risk individuals, and pinpoint effective therapeutic targets are still lacking. This study aims to create the largest Italian cohort of fCCM patients, who will be monitored closely over time to collect data that may help identify risk factors and disease trajectories. The collection of standardized information on clinical and radiological evolution, along with results from circulating biomarkers, will help address the complexities of the disease and may suggest potential reliable markers of disease progression. ClinicalTrials.gov, identifier NCT06983132.
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis.
Familial cavernous malformations (FCMs) are vascular lesions that pose a lifelong risk of symptomatic hemorrhage (SH) and seizures, yet their natural history remains unclear. This study aims to determine the cumulative lifetime risk of a first SH and/or seizure and assess whether genetic variations influence these risks. This international, multicenter retrospective cohort study included data from 16 tertiary referral centers and 1 patient advocacy group. Eligible patients had confirmed or suspected FCM, available magnetic resonance imaging (MRI) data, documented baseline clinical features, and longitudinal follow-up (FU). Functional outcomes were assessed using the modified Rankin Scale (mRS) at last FU. Direct adjusted survival curves and mixed-effects Cox regression analyses were performed to estimate cumulative lifetime risk. The association between genetic variations and SH/seizure rates was evaluated, and mixed-effects logistic regression assessed the effect of SH/seizures on mRS outcomes. A total of 1,592 patients with FCM were included, with a mean age of 37.6 years (SD 17.1) and 55.7% female. The median FU was 42 years (IQR: 27-55), totaling 64,146 person-years. Of these, 869 (54.6%) had confirmed FCM, 775 (48.7%) experienced at least 1 hemorrhage, and 447 (28.1%) had at least 1 seizure. Genetic testing was performed in 47.7%, identifying CCM1 (31.0%), CCM2 (4.8%), and CCM3 (1.9%) variations. The lifetime risk of a first SH was ∼80%, with an event rate that remained constant beyond age 20. The lifetime risk of a first seizure was ∼45%. Patients with CCM3 variations exhibited a more aggressive hemorrhagic course than those with CCM1 (hazard ratio 1.799, 95% CI 1.008-3.208). SH and seizures were independently associated with worse mRS outcomes at last FU. The event rate of SH and seizures remained stable over time, leading to high cumulative lifetime risks. Patients with CCM3 variations exhibited a more aggressive disease course. Limitations include the non-population-based design, selection bias from tertiary centers, retrospective data collection, and variability in data extraction across centers. However, this study represents the largest international FCM cohort to date, improving the precision of risk estimates and providing valuable insights into disease progression.
Publicações recentes
The effect of statins on the risk of bleeding in cerebral cavernous malformations: A systematic review and meta-analysis.
Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation.
Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.
Late-onset familial cerebral cavernous malformation without a family history: a case description.
📚 EuropePMC49 artigos no totalmostrando 102
Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
Radiology case reportsTransient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation.
CureusNatural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.
Frontiers in neurologyFamilial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
Journal of neurochemistryLate-onset familial cerebral cavernous malformation without a family history: a case description.
Quantitative imaging in medicine and surgeryFamilial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.
NeurogeneticsAssociation of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation.
Journal of the American Heart AssociationFamilial Cerebral Cavernous Malformations : A Clinical Series and Literature Review.
Journal of Korean Neurosurgical SocietyLifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis.
NeurologyImproving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Human molecular geneticsComparative Analysis of the Health-Related Quality of Life Between Patients with Familial and Sporadic Forms of Cerebral Cavernous Malformation.
World neurosurgeryPlasma biomarkers in patients with familial cavernous malformation and their first-degree relatives: a cross-sectional study.
Scientific reportsInnovative Quantitative Analysis for Disease Progression Assessment in Familial Cerebral Cavernous Malformations.
IEEE transactions on bio-medical engineeringManagement of Maternal Genetic Conditions in Pregnancy, Part 1: Disorders of the Connective Tissue, Muscle, Vascular, and Skeletal Systems.
Obstetrical & gynecological surveyClinical and radiologic distinctions between familial cavernous malformation syndrome and cerebral amyloid angiopathy.
Acta neurochirurgicaClinical features, hemorrhage risk and epilepsy outcomes of familial cerebral cavernous malformation: A 20-year observational pragmatic single-center study.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationCommentary on "Tobacco use increases lesion burden in familial cerebral cavernous malformation syndrome".
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaTeaching NeuroImage: Familial Cerebral Cavernous Malformation in PDCD10 Genotype.
NeurologyTobacco use increases lesion burden in familial cerebral cavernous malformation syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPrevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.
Stroke and vascular neurologyGenotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.
Clinical and translational medicinePatient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial.
Frontiers in neurologyNovel Development of a Large Cerebral Cavernous Malformation in an Adolescent With a History of Familial Cerebral Cavernous Malformation Syndrome.
CureusFamilial cerebral cavernous malformation presenting with cerebellopontine angle syndrome in a patient with autosomal dominant polycystic kidney disease.
Neurology perspectivesContralateral Interhemispheric Transfalcine Approach to the Basal Ganglia.
World neurosurgeryCirculating biomarkers in familial cerebral cavernous malformation.
EBioMedicineClinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes.
Journal of neurosurgery. PediatricsTowards a neurocognitive profile in familial cerebral cavernous malformations.
Acta neurologica BelgicaA tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation.
Pediatric blood & cancerMolecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Frontiers in neuroscienceAmplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells.
Biochimica et biophysica acta. Molecular cell researchA novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
NeurogeneticsIntracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation.
Journal of the American Heart AssociationClinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.
Annals of clinical and translational neurologyMagnetic susceptibility as a 1-year predictor of outcome in familial cerebral cavernous malformations: a pilot study.
European radiologyMonogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Cellular and molecular neurobiologySafety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial.
The Lancet. NeurologyNatural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
NeuroradiologyIdentification of a novel LATS1 variant associated with familial cerebral cavernous malformations in a Chinese family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyTranscriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in Pdcd10-Depleted Mouse Endothelial Cells.
GenesCirculating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease.
Translational stroke researchSpinal involvement in pediatric familial cavernous malformation syndrome.
NeuroradiologyA Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature.
Frontiers in neurologyPrimary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationMedication intake and hemorrhage risk in patients with familial cerebral cavernous malformations.
Journal of neurosurgeryDe novo brain AVM following radiotherapy for cerebral cavernous malformation in a child: A 15-year clinical course.
The neuroradiology journalMultiple cerebral cavernous malformations: Clinical course of confirmed, assumed and non-familial disease.
European journal of neurologyFamilial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy.
Neurology. Clinical practiceA Midsummer Night's Gene: The familial Neurological Illness of Felix Mendelssohn.
Journal of medical biographyDescription of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationFetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation.
NeurologyAssessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation.
Molecular genetics & genomic medicinePilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations.
Orphanet journal of rare diseasesSeizure Incidence Rates in Children and Adults With Familial Cerebral Cavernous Malformations.
NeurologyFeasibility and Morbidity of Magnetic Resonance Imaging-Guided Stereotactic Laser Ablation of Deep Cerebral Cavernous Malformations: A Report of 4 Cases.
NeurosurgeryAsymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman.
Case reports in radiologyLingual Seizures Due to Familial Cerebral Cavernous Malformations.
Pediatric neurologyNovel COL4A2 mutation causing familial malformations of cortical development.
European review for medical and pharmacological sciencesA Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family.
Frontiers in neuroscienceFamilial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
MedicineFirst Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient.
World neurosurgeryGenome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity.
Methods in molecular biology (Clifton, N.J.)Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.
Methods in molecular biology (Clifton, N.J.)High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort.
AJNR. American journal of neuroradiologyFamilial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
Cancer geneticsPropranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
TrialsConcern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.
Human mutationStereotactic laser interstitial thermal therapy for epilepsy associated with solitary and multiple cerebral cavernous malformations.
Neurosurgical focusA British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene.
Acta neurologica BelgicaNovel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.
World neurosurgeryCutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.
American journal of medical genetics. Part AVertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease.
AJR. American journal of roentgenologyDistinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation.
Science translational medicineCerebral cavernous malformation type 1 with retinal blood vessel tortuosity and KRIT1 gene mutation.
Ideggyogyaszati szemle"Radiologically Isolated" Spinal Cavernoma Associated with Familial Cerebral Cavernomatosis.
European neurologyMolecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Human mutationFamilial Cerebral Cavernous Malformations.
StrokeFamilial Cavernous Hemangioma.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyTwo Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.
Journal of molecular neuroscience : MNSuboccipital Craniotomy for Resection of a Dorsal Medullary Cerebral Cavernous Malformation: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.
Brain and behaviorA novel large deletion in CCM1 gene in a Tunisian family.
Revue neurologiqueManagement of brothers with haemophilia A and familial cerebral cavernous malformations.
Haemophilia : the official journal of the World Federation of HemophiliaConnexin 43 gap junctions contribute to brain endothelial barrier hyperpermeability in familial cerebral cavernous malformations type III by modulating tight junction structure.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyFirst large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
NeurogeneticsA novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation.
Clinical neurology and neurosurgeryFamilial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family.
SeizureHereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis.
World neurosurgeryAutomated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations.
NeuroradiologyFamilial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition.
RadiologyA Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.
Journal of molecular neuroscience : MNAscending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationA Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.
Journal of molecular neuroscience : MNReview of familial cerebral cavernous malformations and report of seven additional families.
American journal of medical genetics. Part AGenetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.
Familial cancerA Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.
Frontiers in aging neuroscienceIdentification 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.
Journal of molecular neuroscience : MNTwo cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
Korean journal of pediatricsFamilial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat.
Journal of the Belgian Society of RadiologyCytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1.
Free radical biology & medicineGenetics of cerebral cavernous malformations: current status and future prospects.
Journal of neurosurgical sciencesIncreased number of white matter lesions in patients with familial cerebral cavernous malformations.
AJNR. American journal of neuroradiologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report.
- Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation.
- Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.
- Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.
- Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data Analysis.
- The effect of statins on the risk of bleeding in cerebral cavernous malformations: A systematic review and meta-analysis.
- Late-onset familial cerebral cavernous malformation without a family history: a case description.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:221061(Orphanet)
- MONDO:0031037(MONDO)
- GARD:13641(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q28020304(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
