Results 21 to 30 of about 827,976 (177)

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.

Surgical Neurology, 2009
Background: Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions.
DRIGO, PAOLA, MAMMI I, MARINI V, TOLDO, IRENE, CAROLLO C., Valeria Marini, Paola Drigo, Isabella Mammi, Carla Carollo, Irene Toldo   +9 more
core   +5 more sources

Familial cerebral cavernous malformation presenting with cerebellopontine angle syndrome in a patient with autosomal dominant polycystic kidney disease [PDF]

Neurology Perspectives
Ritwik Ghosh, Moisés León-Ruiz, Dipayan Roy, Julián Benito-León   +3 more
doaj   +2 more sources

Cutaneous Findings of Familial Cerebral Cavernous Malformation Syndrome Due to the Common Hispanic Mutation [PDF]

American Journal of Medical Genetics, Part A, 2020
Blaine Hart, Vernon J Forrester, Leslie Morrison   +2 more
exaly   +2 more sources

Developing a Randomised Efficacy PREcision medicine Platform trial design for Cavernomas: the CARE PREP study

Efficacy and Mechanism Evaluation
Background Symptomatic cerebral cavernous malformations are a rare sporadic or familial disease, which may cause haemorrhagic strokes or epileptic seizures.
Rustam Al-Shahi Salman, Kasia Adamczuk, Richard A Parker, Christopher J Weir, Roberto Latini, Helen Kim, David White, Helen Evans, Jana Bergholtz, Cornelia Lee, Carlos Casaus   +10 more
doaj   +2 more sources

Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy. [PDF]

Neurol Clin Pract, 2021
A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH).
Ridha M, Aziz Y, Broderick J.
europepmc   +3 more sources

A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature

Journal of Pain Research, 2019
Weiwei Yu, Haiqiang Jin, Qian You, Ding Nan, Yining HuangDepartment of Neurology, Peking University First Hospital, Beijing 100034, People’s Republic of ChinaAbstract: Cerebral cavernous malformations (CCMs) are one of the most common types of ...
Yu W, Jin H, You Q, Nan D, Huang Y
doaj   +1 more source

Review of familial cerebral cavernous malformations and report of seven additional families

American Journal of Medical Genetics Part A, 2016
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10.
van Steensel, Maurice A. M., de Vos, Ivo J. H. M., Vreeburg, Maaike, Koek, Ger H.   +3 more
core   +4 more sources

Patient-Reported Outcome Measures in Patients With Familial Cerebral Cavernous Malformations: Results From the Treat_CCM Trial

Frontiers in Neurology
BackgroundThe Phase 1/2 Treat_CCM randomized controlled trial for people with familial cerebral cavernous malformations (FCCMs) confirmed the safety of propranolol and suggested beneficial effects on intracerebral hemorrhage or new focal neurological ...
Enrico Bjørn Nicolis, Laura Tassi, Jennifer Mta Meessen   +2 more
exaly   +3 more sources

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Cell Reports
Summary: Cerebral cavernous malformation (CCM) is a neurovascular disease distinguished by clusters of leaky, mulberry-like blood vessels. KRIT1 bi-allelic loss-of-function mutations in endothelial cells are known to trigger brain cavernomas; however ...
Maximiliano Arce, Iza Erzar, Fan Yang, Neeharika Senthilkumar, Favour C. Onyeogaziri, Dario Ronchi, Frida C. Ahlstrand, Nora Noll, Roberta Lugano, Mark Richards, Elisa Scola, Monica Corada, Francesca Lazzaroni, Linda Meggiolaro, Jens Schuster, Niklas Dahl, Mika Niemelä, Behnam Rezai Jahromi, Anna Dimberg, Silvia Lanfraconi, Roberto Latini, Peetra U. Magnusson   +21 more
doaj   +2 more sources

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
Blaine Hart, Leslie Morrison, Therese J. Bocklage   +2 more
exaly   +2 more sources