Results 41 to 50 of about 6,942 (204)

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations [PDF]

, 2014
Background: Cerebral cavernous malformations are relatively rare vascular disorders that may affect any part of the central nervous system. This presentation has been associated with heterozygous mutations in CCM1/KRIT1, CCM2/malcavernin and CCM3/PDCD10.
D. Ronchi, N. Bresolin, G.P. Comi, Naghia Ahmed, S. Corti, Silvia Lanfranconi, Nereo Bresolin, Stefania Corti, Paola Basilico, Giacomo Pietro Comi, V. Civelli, P. Basilico, Vittorio Civelli, Dario Ronchi, S. Lanfranconi, N. Ahmed   +15 more
core   +1 more source

Multiple cerebral cavernous malformations - a case report [PDF]

Romanian Journal of Neurology, 2013
Cavernomas are frequent low-flow vascular malformations with a characteristic MRI aspect due to their specific morphology. We present the case of a 64-year old male diagnosed in 2008 with multiple cerebral cavernomas and symptomatic epilepsy, who ...
Ana-Maria Vladila, Georgiana Pavel, Dan Mitrea, Sanda Nica, Gabriela Mihailescu, Irene Davidescu, Ioan Buraga   +6 more
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

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

, 2012
We present a family afflicted by both extensive cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs). These may be inherited in an autosomal dominant pattern or occur sporadically.
Nicholas-Bublick, Selena, Koffman, Boyd M.   +1 more
core   +1 more source

An Insight into the microRNAs Associated with Arteriovenous and Cavernous Malformations of the Brain

Cells, 2021
Background: Brain arteriovenous malformations (BAVMs) and cerebral cavernous malformations (CCMs) are rare developmental anomalies of the intracranial vasculature, with an irregular tendency to rupture, and as of yet incompletely deciphered ...
Ioan Alexandru Florian, Andrei Buruiana, Teodora Larisa Timis, Sergiu Susman, Ioan Stefan Florian, Adrian Balasa, Ioana Berindan-Neagoe   +6 more
doaj   +1 more source

Two cases of ventral midbrain cavernous malformations successfully removed through orbitozygomatic interpeduncular approach

Interdisciplinary Neurosurgery, 2016
Ventral midbrain cavernous malformations are rare, and annual bleeding rate is higher than supratentorial lesions. Rebleeding rate is also high if surgical resection is incomplete. The ventral midbrain is deeply located and surrounded by many perforators,
Keiichi Tsuji, Naoki Nitta, Kenji Takagi, Toshihiro Yokoi, Kazuhiko Nozaki   +4 more
doaj   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

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   +1 more source

Cavernous malformation hemorrhage due to trans-mural pressure alterations after cerebrospinal fluid diversion: a case report

BMC Neurology, 2020
Background Cavernous malformations are rare cerebral pseudo-vascular lesions with annualized bleeding rates of 0.5–3% in most studies. Of the various explored risk factors for bleeding to date, only prior hemorrhage has shown significant correlation ...
Benjamin R. Hartley, Corinne Birnbaum, Caitlin E. Hoffman   +2 more
doaj   +1 more source

Clinical Reasoning: Cerebral cavernous malformations [PDF]

Neurology, 2009
A 40-year-old man presented for management of seizures. His first seizure was 5 years earlier. Evaluation at that time revealed a hemorrhagic lesion near the occipital horn of the left lateral ventricle. Incomplete surgical excision was performed with indeterminate pathology suggestive of an astrocytoma.
Lama M, Chahine, Michel J, Berg
openaire   +2 more sources