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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   +3 more sources

Cerebral cavernous malformation with secondary bacterial infection: illustrative case. [PDF]

J Neurosurg Case Lessons
BACKGROUND Secondary infection of cerebral cavernous malformations (CCMs) is exceedingly rare, with only a few cases reported in the literature. While CCMs are typically sporadic or familial vascular malformations, there is growing evidence that local or
Gujjari KS, Farsakh A, Mariajoseph FP, Chen BY, Thomas A, Kumar B, Badran A.   +6 more
europepmc   +2 more sources

Coexisting Hemorrhagic Cerebral Cavernous Malformation and Developmental Venous Anomaly Resulting in Frontal Lobe Seizures: A Case Report. [PDF]

Asian J Neurosurg
Cerebral cavernous malformations (CCMs) are vascular malformations that can cause seizures and hemorrhages. Managing CCMs associated with developmental venous anomalies (DVAs) becomes more complex due to the risk of venous infarction and hemorrhage if ...
Dang TK, Tran TPY, Nu TMT, Bui THK, Tran MC, Tran NP, Truong VT.   +6 more
europepmc   +2 more sources

An Aggressive Cerebral Cavernous Malformation Presenting With Hemorrhage: A Case Report. [PDF]

Cureus
Cerebral cavernous malformations (CCMs) are rare vascular malformations that are typically not visualized on cerebral angiography and are often discovered incidentally on brain MRI.
Hayashi Y, Matsuo S, Seo R, Kitamura T, Torigai T.   +4 more
europepmc   +2 more sources

Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. [PDF]

PLoS ONE, 2016
Mutations in CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation in humans. Mouse models of CCM disease have been established by deleting Ccm genes in postnatal animals.
Jaesung P Choi, Matthew Foley, Zinan Zhou, Weng-Yew Wong, Naveena Gokoolparsadh, J Simon C Arthur, Dean Y Li, Xiangjian Zheng   +7 more
doaj   +10 more sources

A Rare Case of Human Herpesvirus 6 Meningitis in an Immunocompetent Adult Presenting With Recurrent Encephalopathy: Could Prior Head Trauma or an Incidental Cerebral Cavernous Malformation Be a Predisposing Factor? [PDF]

Cureus
Human herpesvirus 6 (HHV-6) meningitis/encephalitis is typically seen in immunocompromised patients, with rare reports in immunocompetent adults. We present the case of a 52-year-old immunocompetent man with recurrent acute encephalopathy and incidental ...
Luan Z.
europepmc   +2 more sources

Developmental venous anomaly related to de novo cerebral cavernous malformation: Imaging findings from two cases [PDF]

Radiology Case Reports
The association between a developmental venous anomaly (DVA) and a cerebral cavernous malformation (CCM) is well-established. The development of a de novo CCM (dnCCM) adjacent to a preexisting DVA suggests that certain characteristics of the ...
Sergio Gordillo Tovar, MD, Andrés Felipe Parra, MD   +1 more
doaj   +2 more sources

Female hormone therapy and risk of intracranial hemorrhage and focal neurological deficits in patients with cavernous malformations of the central nervous system [PDF]

Frontiers in Neurology
BackgroundFemale hormone therapy [FHT, birth control treatment and postmenopausal hormone replacement therapy (HRT)] is not withheld from patients with cerebral cavernous malformations (CCM), notwithstanding the uncertainty surrounding the impact of ...
Saskia Wildi, Saskia Wildi, Selina Nager, Selina Nager, Victor Staartjes, Victor Staartjes, Vittorio Stumpo, Vittorio Stumpo, Sena Özkaratufan, Sena Özkaratufan, Niklaus Krayenbühl, Niklaus Krayenbühl, Niklaus Krayenbühl, Oliver Bozinov, Luca Regli, Luca Regli, Julia Velz, Julia Velz, Julia Velz   +18 more
doaj   +2 more sources

The Emerging Role of the Gut Microbiome in Cerebral Cavernous Malformation: A New Novel Therapeutic Strategy? [PDF]

Int J Mol Sci
Cerebral cavernous malformation (CCM) is a cluster of abnormal blood vessels in the brain that leads to severe neurological deficits, seizures, and fatal hemorrhagic stroke. Currently, there is no available drug treatment for CCM.
Sadegh H, Choi JP.
europepmc   +2 more sources

Release of STK24/25 suppression on MEKK3 signaling in endothelial cells confers cerebral cavernous malformation

JCI Insight, 2023
Loss-of-function mutations in cerebral cavernous malformation (CCM) genes and gain-of-function mutation in the MAP3K3 gene encoding MEKK3 cause CCM. Deficiency of CCM proteins leads to the activation of MEKK3-KLF2/4 signaling, but it is not clear how ...
Xi Yang, Shi-Ting Wu, Rui Gao, Rui Wang, Yixuan Wang, Zhenkun Dong, Lu Wang, Chunxiao Qi, Xiaohong Wang, M. Lienhard Schmitz, Renjing Liu, Zhiming Han, Lu Wang, Xiangjian Zheng   +13 more
doaj   +2 more sources