Results 41 to 50 of about 827,976 (177)

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

Obstructive hydrocephalus secondary to an anterior mesencephalic cavernous malformation with familial cerebral cavernous malformation syndrome: A case report. [PDF]

Radiol Case Rep
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.
Khalil G, Raad E, Khalil MA, Hay JA.
europepmc   +3 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

Discovery of familial cerebral cavernous malformation in a Saudi population. [PDF]

BMJ Case Rep, 2013
Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time.
Nahrir S, Al-Hameed MH, Al-Sinaidi OA, Al Shakweer W.   +3 more
europepmc   +4 more sources

Multidrug-Loaded Lipid Nanoemulsions for the Combinatorial Treatment of Cerebral Cavernous Malformation Disease

Biomedicines, 2023
Cerebral cavernous malformation (CCM) or cavernoma is a major vascular disease of genetic origin, whose main phenotypes occur in the central nervous system, and is currently devoid of pharmacological therapeutic strategies.
Andrea Perrelli, Annalisa Bozza, Chiara Ferraris, Sara Osella, Andrea Moglia, Silvia Mioletti, Luigi Battaglia, Saverio Francesco Retta   +7 more
doaj   +1 more source

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 ...
Zhang, Lingjiao, Jorge Marcondes de Souza, Stockton, Rebecca A, Wang Min, Akers, Amy L, Carol J. Gallione, Changbin Shi, Shenkar, Robert, Rebeiz, Tania, Robert Shenkar, Min, Wang, Awad, Issam A, Marcondes de Souza, Jorge, Douglas A. Marchuk, Lingjiao Zhang, Gallione, Carol J, Abdul Ghani Mikati, David A. McDonald, Marchuk, Douglas A, Autumn Rorrer, Shi, Changbin, Cecilia Austin, Amy L. Akers, Connie Lee, McDonald, David A, Lee, Connie, Murat Gunel, Tania Rebeiz, Rebecca A. Stockton, Issam A. Awad, Mikati, Abdul Ghani, Rorrer, Autumn, Gunel, Murat, Austin, Cecilia   +33 more
core   +1 more source

Arteriovenous Malformation of Lower Lip in Familial Cerebral Cavernous Malformation Syndrome: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Familial Cerebral Cavernous Malformations (FCCM) is a genetic condition marked by the presence of numerous vascular abnormalities within the brain and spinal cord.
Riya Anand Goyal, Nitin Dharampal Bhola, Sanjana Wadewale, Rajanikanth Kambala   +3 more
doaj   +1 more source

Cerebral proliferative angiopathy accompanied by cerebral cavernous malformation: A case report

, 2021
Cerebral Proliferative Angiopathy (CPA) is a rare vascular malformation that is distinguished from classical brain arteriovenous malformations (AVM) in its imaging findings and clinical progression but more importantly in its pathophysiology.
Akgül, Erol, Engin, Eyüp Furkan, Ertan Akan, Gülhan, Polat, Burcu, Eyüp Furkan Engin, Burcu Polat, Gülhan Ertan Akan, Erol Akgül   +7 more
core   +1 more source

Familial cerebral cavernous malformation syndrome in Serbian family [PDF]

, 2018
Cavernomas are benign vascular malformations, and about 50% of all cases are multiple. The hereditary form of brain cavernomas is uncommon, and it is certainly under diagnosed. Another entity is familial cerebral cavernous malformation syndrome.
Vuk, Aleksić, Miroljub, Jovančević, Vladimir, Miladinović, Marko, Samardžić, Marko, Rapaić, Igor, Popović, Aleksandar, Mandarić, Milenko, Stanić, Miljan, Mihajlović, Milan, Spaić, Nemanja, Aleksić   +10 more
core   +1 more source

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

Antioxidants, 2022
Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta   +6 more
doaj   +1 more source