Results 31 to 40 of about 6,501 (209)

Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease [PDF]

American Journal of Roentgenology, 2020
Leslie A Morrison, Blaine L Hart
exaly   +2 more sources

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Wenyu Liu, Wenyu Liu, Ming Liu, Ming Liu, Di Lu, Di Lu, Jiwei Wang, Jiwei Wang, Zexin Cao, Zexin Cao, Xuchen Liu, Xuchen Liu, Zichao Feng, Zichao Feng, Bin Huang, Bin Huang, Xinyu Wang, Xinyu Wang   +17 more
doaj   +1 more source

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update

Dermatopathology, 2021
Our knowledge in vascular anomalies has grown tremendously in the past decade with the identification of key molecular pathways and genetic mutations that drive the development of vascular tumors and vascular malformations.
Isabel Colmenero, Nicole Knöpfel
doaj   +1 more source

Magnetic Resonance Imaging of Multiple Cerebral and Spinal Cavernous Malformations of a Patient with Dementia and Tetraparesis

Diagnostics, 2022
Cavernomas are rare cerebrovascular malformations that usually occur in sporadic forms with solitary lesions located most often in the hemispheric white matter, but also in the infratentorial or spinal region. Multiple lesions at different CNS levels are
Florian Antonescu, Ioana Butnariu, Florentina Melania Cojocaru, Daniela Nicoleta Anghel, Dana Antonescu-Ghelmez, Sorin Tuță   +5 more
doaj   +1 more source

Medical monitoring of patient with cavernous hemangioma of the retina and intracranial involvement

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a case report of Cavernous Hemangioma of the Retina (CHR) and highlight the importance of investigating intracranial system when retinal vascular alterations are present.
Laís Yumi Sakano, Carlos Roberto Neufeld, Teruo Aihara   +2 more
doaj   +1 more source

Molecular genetics of familial cerebral cavernous malformations [PDF]

Neurosurgical Focus, 2006
✓Cerebral cavernous malformations (CMs) are angiographically occult neurovascular lesions that consist of enlarged vascular channels without intervening normal parenchyma. Cavernous malformations can occur as sporadic or auto-somal-dominant inherited conditions.
Shervin R, Dashti, Alan, Hoffer, Yin C, Hu, Warren R, Selman   +3 more
openaire   +2 more sources

Towards a neurocognitive profile in familial cerebral cavernous malformations

Acta Neurologica Belgica, 2023
Abstract Background Familial cerebral cavernous malformations (FCCM) is a rare autosomal dominant disease, characterized by vascular malformations that can lead to macro and microhemorrhages. The neurocognitive impact of FCCM is still underrecognized.
Cristiana Silva, João Durães, Marisa Lima, Daniela Jardim Pereira, Isabel Santana, Maria Rosário Almeida   +5 more
openaire   +2 more sources

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]

, 2017
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), Cohn-Hokke, P.E. (P.), Flier, W.M. (Wiesje) van der, Holstege, H. (Henne), Meijers-Heijboer, E.J. (Hanne), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Sistermans, E.A. (Erik), Swieten, J.C. (John) van, Weiss, M.M. (Marjan M.)   +9 more
core   +4 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
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, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +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