Results 171 to 180 of about 6,501 (209)

Abstract WMP99: Circulating Plasma Biomarkers Associated with Familial Cerebral Cavernous Malformation, Hereditary Hemorrhagic Telangiectasia and Sturge-Weber Syndrome

Stroke
Introduction: Circulating plasma protein profiling in individuals with brain vascular disorders may aid in the identification of robust diagnostic biomarkers, stratification of high-risk patients for treatment, and monitoring of disease progression or
S. Weinsheimer, Andrew Nixon, J. Nelson, Chris Brady, Charles E McCulloch, D. Marchuk, I. Awad, Marie E. Faughnan, Jeffrey Loeb, Michael T. Lawton, Helen Kim   +10 more
semanticscholar   +1 more source

Clinical Features, Hemorrhage Risk and Epilepsy Outcomes of Familial Cerebral Cavernous Malformation: a 20-year Observational Pragmatic Single-Center Study: Clinical Outcomes of Familial CCM: a 20-year Observational Study.

Journal of Stroke & Cerebrovascular Diseases
INTRODUCTION Familial Cerebral Cavernous Malformations (fCCMs) are rare, hereditary conditions characterized by multiple central nervous system lesions. Despite their rarity, CCMs can cause significant clinical challenges when symptomatic, manifesting as
G. F. Galvão, Vinicius Barbosa Neumann, Gabriel Verly, Pablo Valença, Alexandre Martins Cunha, Marcello Reis da Silva, Flávio Sampaio Domingues, J. M. de Souza   +7 more
semanticscholar   +1 more source

Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

Journal of Stroke and Cerebrovascular Diseases, 2021
Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated ...
Pablo Iruzubieta, David Campo-Caballero, Jon Equiza, Inés Albajar, Naroa Sulibarría, Raquel Sáez, Naiara Andrés, Elisabet Mondragón, Miren Zulaica, Ana de Arce, Miguel Urtasun, Adolfo López de Munain   +11 more
openaire   +2 more sources

Abstract DP225: Inflammation and Angiogenic Biomarkers Associated With Familial Cerebral Cavernous Malformation, Hereditary Hemorrhagic Telangiectasia and Sturge-Weber Syndrome

Stroke
Introduction: Circulating plasma protein biomarkers may distinguish between related diseases that share common disease mechanisms, such as neuroinflammation and angiogenesis. We aimed to compare inflammatory and angiogenic protein levels between three
S. Weinsheimer, Andrew Nixon, Mark Starr, J. Nelson, Chris Brady, Charles E McCulloch, D. Marchuk, I. Awad, Marie E. Faughnan, Jeffrey Loeb, Michael Lawton, Helen Kim   +11 more
semanticscholar   +1 more source

Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation

Journal of Neurosurgery: Spine, 2008
Spinal vascular malformations are uncommon lesions, and controversy persists regarding optimal investigation, classification, and treatment strategies. The authors report on a patient with a spinal root arteriovenous malformation (AVM) associated with a parenchymal cavernous malformation (CM) in the same spinal cord segment and describe a complete ...
Jorge Marcondes, De Souza, Flavio S, Domingues, Leila, Chimelli, Judith, Gault   +3 more
openaire   +2 more sources

Abstract DP373: Patient-Reported Quality of Life and Symptom Associations in Pediatric Familial Cerebral Cavernous Malformation

Stroke
Background: Familial cerebral cavernous malformation (fCCM) is an autosomal dominant neurovascular disorder characterized by multiple lesions that increase risk of intracranial hemorrhage (ICH), seizures, and headaches. The impact of these symptoms on
Kaitlyn Lee, S. Chawla, J. Nelson, Cynthia Tsang, Rachel Vassar, Nerissa U Ko, Charles E McCulloch, Edward R Smith, S. Vadivelu, Amy Akers, Cornelia Lee, Joseph Zabramski, Michel Torbey, Marc Mabray, I. Awad, Helen Kim   +15 more
semanticscholar   +1 more source

Review of familial cerebral cavernous malformations and report of seven additional families

American Journal of Medical Genetics Part A, 2016
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 ...
de Vos, Ivo J. H. M., Vreeburg, Maaike, Koek, Ger H., van Steensel, Maurice A. M.   +3 more
openaire   +3 more sources

Novel 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 Neurosurgery, 2020
Background Cerebral cavernous malformations (CCMs) are vascular capillary anomalies with a dysfunctional endothelial adherent junction profile, depicting hemorrhage and epilepsy as the main clinical features.
F. Fontes-Dantas, Gustavo da Fontoura Galvão, Elielson Veloso da Silva, S. Alves‐Leon, Cláudia Cecília da Silva Rêgo, D. G. Garcia, S. A. Marques, A. M. Blanco Martinez, Marcello Reis da Silva, J. Marcondes de Souza   +9 more
semanticscholar   +1 more source

Cavernous familial cerebral malformation

2016
Clinical History Image Findings Discussion Find Diagnosis Differential ...
openaire   +1 more source

Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family [PDF]

Seizure: the Journal of the British Epilepsy Association, 2017
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two
Inês, Rosário Marques, Francisco, Antunes, Nadine, Ferreira, Miguel, Grunho   +3 more
exaly   +3 more sources