Results 11 to 20 of about 827,976 (177)

A novel CCM2 gene mutation associated with family cerebral cavernous malformation [PDF]

Frontiers in Aging Neuroscience, 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.
Wen-Qing Huang, Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Liang-Liang Cai, Ming-Li Li, Ming-Li Li, Han Wang, Han Wang, Qing Lin, Qing Lin, Chi-Meng Tzeng, Chi-Meng Tzeng, Chi-Meng Tzeng   +16 more
doaj   +5 more sources

Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman

Case Reports in Radiology, 2021
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, Emmanuel Kobina Mesi Edzie, Philip Narteh Gorleku, Henry Kusodzi, Abdul Raman Asemah   +4 more
doaj   +2 more sources

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation. [PDF]

Cureus
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by a collection of thin-walled capillaries with slow blood flow, which are often identified incidentally on MRI.
Scott ML, Ross DE.
europepmc   +5 more sources

High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort [PDF]

American Journal of Neuroradiology, 2020
Background and purposeCavernous malformations occur most often in the brain but can occur in the spinal cord. Small studies of patients with familial cerebral cavernous malformations suggested a prevalence of spinal cord cavernous malformations of 20%-42%
Kim, H, Robinson, M, Bartlett, M, Zafar, A, Mabray, MC, Nelson, J, Morrison, L, Starcevich, J, Hallstrom, J, Hart, BL   +9 more
core   +6 more sources

Intramedullary Spinal Cord Cavernous Angiomas in Familial Cerebral Cavernous Malformations. [PDF]

Genes (Basel)
Background: Spinal cord cavernous malformations (SCCMs) are vascular malformations characterized by blood-filled cavities, often leading to neurological deficits.
Zedde M, D'Agostino V, Pezzella FR, Lochner P, Seneca V, Catapano G, Pascarella R.   +6 more
europepmc   +5 more sources

Familial cerebral cavernous malformation.

Folia Neuropathologica, 2012
Cavernous malformations (CMs) occur in approximately 0.5% of the general population and represent 5-10% of the central nervous system vascular malformations. The majority of CMs appear sporadically but genetically determined familial forms account for 10%
Ziora Jakutowicz K, Matyja E, Kunert P, Dziedzic T, Marchel A., SIDOTI, Antonina   +5 more
core   +4 more sources

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 ...
Judith Gault, Flavio S. Domingues, Leila Chimelli, Jorge Marcondes De Souza   +3 more
core   +3 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   +2 more sources

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation [PDF]

Case Reports in Neurology, 2016
Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista   +3 more
doaj   +3 more sources

Natural History of Familial Cerebral Cavernous Malformations: The CCM_Italia Cohort Study

Frontiers in Neurology
BackgroundFamilial cerebral cavernous malformations (fCCMs) are a rare genetic autosomal dominant cerebrovascular disease characterized by multiple cerebral and spinal angiomas. The condition is caused by mutations in KRIT1 (CCM1), CCM2 (malcavernin), or
Maria Teresa Bozzi
exaly   +3 more sources