Results 41 to 50 of about 6,501 (209)

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation. [PDF]

Front Aging Neurosci, 2016
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.
Huang WQ, Lu CX, Zhang Y, Yi KH, Cai LL, Li ML, Wang H, Lin Q, Tzeng CM.   +8 more
europepmc   +5 more sources

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
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, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management Malformação cavernosa cerebral familiar: um estudo no Rio de Janeiro e revisão das recomendações para tratamento

Arquivos de Neuro-Psiquiatria, 2008
OBJECTIVE: Multiple cerebral cavernous malformation (CCM) is the hallmark of familial presentation of cavernous malformation in the brain. We describe an ongoing Familial Cerebral Cavernous Malformation Project in the Rio de Janeiro state showing genetic
Flávio Domingues, Emerson L. Gasparetto, Ricardo Andrade, Fabio Noro, Antônio Eiras, Judith Gault, Carlos Eduardo Silva Correia, Jorge Marcondes de Souza   +7 more
doaj   +1 more source

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation. [PDF]

Brain Behav
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Zhu X, Yao Y, Yu T, Xiao X.
europepmc   +2 more sources

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

, 2018
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., Gooch, MD, Michael R., Khanna, Omaditya   +2 more
core   +2 more sources

Susceptibility-weighted imaging in familial cerebral cavernous malformations [PDF]

Neurology, 2008
A 59-year-old man with a family history of cerebral cavernous malformations (CCM) presented with focal seizures. T2*-weighted gradient echo (GRE) images showed multiple lesions consistent with cavernous malformations (figure 1). Susceptibility-weighted images (SWI) detected nearly triple the number of lesions than were seen with the GRE sequence ...
Alex D, Cooper, Norbert G, Campeau, Irene, Meissner   +2 more
openaire   +2 more sources

Variable expression of cerebral cavernous malformation in carriers of a premature termination codon in exon 17 of the Krit1 gene [PDF]

, 2003
Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Costa Martins, Alzenira de Fátima, García Moreno, José Manuel, Izquierdo Ayuso, Guillermo, Lucas Lucas, Miguel, Solano Manchego, Francisca   +4 more
core   +3 more sources

Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]

, 2016
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 ...
Skytte, Anne-Bine, Stausbøl-Grøn, Brian, Whitworth, James   +2 more
core   +2 more sources

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +1 more source

A tangled web: Dual diagnosis of hereditary hemorrhagic telangiectasia and familial cerebral cavernous malformation

Pediatric Blood & Cancer, 2023
toward
Manjusha Kumar, Carla Fleck, M. Heiman
semanticscholar   +1 more source