Results 11 to 20 of about 1,916 (204)

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy

Brain and Behavior
Introduction Cerebral cavernous malformation (CCM) is a type of cerebrovascular abnormality in the central nervous system linked to both germline and somatic genetic mutations.
Zhuangzhuang Zhang, Jianwen Deng, Weiping Sun, Zhaoxia Wang   +3 more
doaj   +2 more sources

Cerebral Cavernous Malformation (CCM)-like Vessel Lesion in the Aged ANKS1A-deficient Brain. [PDF]

Exp Neurobiol, 2023
In this study, we show that ANKS1A is specifically expressed in the brain endothelial cells of adult mice. ANKS1A deficiency in adult mice does not affect the differentiation, growth, or patterning of the cerebrovascular system; however, its absence significantly impacts the cerebrovascular system of the aged brain. In aged ANKS1A knock-out (KO) brains,
Lee J, Lee H, Shin M, Park S.
europepmc   +3 more sources

Inflammation in Cerebral Cavernous Malformations: Differences Between Malformation Related Epilepsy vs. Symptomatic Hemorrhage [PDF]

Cells
Background and Objective: Cerebral cavernous malformation (CCM) is a vascular disorder causing seizures, neurological deficits, and hemorrhagic stroke. It can be sporadic or inherited via CCM1, CCM2, or CCM3 gene mutations.
Jan Rodemerk, Adrian Engel, Julius L. H. Horstmann, Laurèl Rauschenbach, Marvin Darkwah Oppong, Alejandro N. Santos, Andreas Junker, Cornelius Deuschl, Michael Forsting, Yuan Zhu, Ramazan Jabbarli, Karsten H. Wrede, Börge Schmidt, Ulrich Sure, Philipp Dammann   +14 more
doaj   +2 more sources

Single-cell transcriptome profiling reveals dynamic cell populations and immune infiltration in cerebral cavernous malformation [PDF]

Frontiers in Immunology
IntroductionThe cellular subpopulations and signaling pathways in the pathological tissues of cerebral cavernous malformation (CCM) remain incompletely understood. To gain a deeper understanding of the pathogenesis of CCM, we aimed to comprehensively map
Zhiguang Han, Chengxu Lei, Zhenyu Zhou, Yutong Liu, Yuanli Zhao, Shihao He   +5 more
doaj   +2 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

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM [PDF]

The FEBS Journal, 2010
Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of ...
Florence, Riant, Francoise, Bergametti, Xavier, Ayrignac, Gwenola, Boulday, Elisabeth, Tournier-Lasserve   +4 more
openaire   +4 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

Vertigo due to cerebellar cavernous malformation: A case report

Radiology Case Reports, 2022
Central vertigo is a result of vestibular structure dysfunction in the central nervous system. Currently, misdiagnoses between peripheral and central lesions are frequent, and diagnostic testing costs are high.
Putri Maharani, MD, Hanik Badriyah Hidayati, MD; PhD, Shahdevi Nandar Kurniawan, MD; PhD   +2 more
doaj   +1 more source

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Frontiers in Oncology, 2023
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/
Zhenxing Liu, Kaikai Guo, Xuebin Hu, Xianqin Zhang   +3 more
doaj   +1 more source

Inflammatory Mechanisms in a Neurovascular Disease: Cerebral Cavernous Malformation

Brain Sciences, 2023
Cerebral cavernous malformation (CCM) is a common cerebrovascular malformation causing intracranial hemorrhage, seizures, and focal neurologic deficits.
Ying Li, Abhinav Srinath, Roberto J. Alcazar-Felix, Stephanie Hage, Akash Bindal, Rhonda Lightle, Robert Shenkar, Changbin Shi, Romuald Girard, Issam A. Awad   +9 more
doaj   +1 more source