Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation [PDF]
Journal of the American Heart Association, 2023 Background Familial cerebral cavernous alformation (CCM) is an autosomal dominant disease caused by mutations in KRIT1, CCM2, or PDCD10. Cases typically present with multiple lesions, strong family history, and neurological symptoms, including seizures ...
Blaine Hart +2 more
exaly +4 more sources
Association of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation [PDF]
Journal of the American Heart AssociationBackground Familial cerebral cavernous malformation (fCCM) is characterized by multiple brain lesions affecting quality of life. PROMIS‐29 (Patient‐Reported Outcomes Measurement Information System 29) is a quality of life survey validated in some ...
Rachel Vassar +2 more
exaly +4 more sources
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view [PDF]
Frontiers in Neuroscience, 2023 Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen +12 more
doaj +2 more sources
Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts. Methods Familial CCM cases
Foram Choksi +12 more
doaj +2 more sources
Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden [PDF]
Annals of Clinical and Translational Neurology, 2023 Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim +8 more
doaj +2 more sources
Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation‐Region Frameshift Variant [PDF]
Molecular Genetics & Genomic MedicineBackground Familial cerebral cavernous malformation (CCM) is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability.
Özlem Yayıcı Köken +5 more
doaj +2 more sources
Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
doaj +2 more sources
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial [PDF]
Trials, 2020 Background Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system.
Silvia Lanfranconi +26 more
doaj +2 more sources
Brainstem Cavernous Malformation Mimicking Glioma in Neurofibromatosis Type 1: A Rare Diagnostic Pitfall [PDF]
DiagnosticsBackground and Objectives: A cerebral cavernous malformation (cavernoma) is a lesion composed of clustered abnormal capillary channels lacking normal brain parenchyma between them.
Arturs Laganovskis +6 more
doaj +2 more sources
Circulating biomarkers in familial cerebral cavernous malformationResearch in context [PDF]
EBioMedicineSummary: Background: Cerebral Cavernous Malformation (CCM) is a rare cerebrovascular disease, characterized by the presence of multiple vascular malformations that may result in intracerebral hemorrhages (ICHs), seizure(s), or focal neurological ...
Francesca Lazzaroni +31 more
doaj +2 more sources