Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL +5 more
europepmc +2 more sources
Diagnosis and treatment status of suprasellar optic pathway cavernous malformations
Cerebral cavernous malformations constitute a subtype of cerebral vascular malformation typically located in the cerebral cortex. However, their occurrence in the suprasellar optic pathway is relatively rare.
Songbai Xu, Liu Yang
doaj +1 more source
Cerebral cavernomatosis and epilepsy: treatment and serial imaging follow-up [PDF]
Cerebral malformations, known as cavernomas, are low flow vascular malformations that have a multilobulated appearance. A large percent of cavernous malformations have seizures as initial symptoms.
Catalina Elena Bistriceanu +1 more
doaj +1 more source
Mitral valve plasty in a patient with multiple cerebral cavernous malformations: A case report
Cerebral cavernous malformations (CCMs) are blood vessel malformations, often untreated if asymptomatic. However, upon cardiac surgery with cardiopulmonary bypass, cerebral edema/hemorrhage may occur.
Shigeyuki Yamashita +6 more
doaj +1 more source
Rigid endoscopic surgery of brainstem cavernous malformation on the cerebral aqueduct. Case report
Cavernous angiomas (malformations) of the brain occur in 0.5% of the population. Most of them are asymptomatic, but due to their anatomical features, namely escape of blood into surrounding tissues, significant neurological symptoms can occur.
Orest I. Palamar +4 more
doaj +1 more source
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik) +9 more
core +4 more sources
Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat [PDF]
Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Lemmerling, Marc +2 more
core +3 more sources
Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman
Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain.
Klenam Dzefi-Tettey +4 more
doaj +1 more source
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L +16 more
core +2 more sources
A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K. +2 more
core +2 more sources

