Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12031-015-0606-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Technical note: Enhanced radiosurgical planning for cavernous sinus tumors using T1 SPACE sequences with Motion-Sensitized Driven Equilibrium (MSDE).
J Clin Neurosci
January 2025
Department of Neurological Surgery and Rosa Ella Burkhardt Brain Tumor & Neuro-Oncology Center, Cleveland Clinic, Cleveland, OH, USA; Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. Electronic address:
Background And Objective: Radiosurgery can serve as a primary, adjuvant, or salvage treatment modality for cavernous sinus tumors (CST), providing high tumor control. However, particularly with cavernous sinus expansion, there may be insufficient distance from the optic apparatus to perform radiosurgery safely. The internal carotid artery adjacent to the distal dural ring (ICAddr), when enhancing similarly to the CST, can be difficult to delineate, and can lead to over-contouring of target volume near the optic nerve and therefore increasing the risk of radiation-induced optic toxicity.
View Article and Find Full Text PDFCirculating molecules reflect imaging biomarkers of hemorrhage in cerebral cavernous malformations.
J Cereb Blood Flow Metab
January 2025
Neurovascular Surgery Program, Department of Neurological Surgery, University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.
Increases in mean lesional iron content by quantitative susceptibility mapping (QSM) by ≥6% and/or vascular permeability by dynamic contrast enhanced quantitative perfusion (DCEQP) by ≥40% on MRI have been associated with new symptomatic hemorrhage (SH) in cerebral cavernous malformations (CCMs). It is not known if plasma biomarkers can reflect these changes within the lesion proper. This cohort study enrolled 46 CCM patients with SH in the prior year.
View Article and Find Full Text PDFClimate change has caused heat stress (HS) to become an increasingly severe problem for high-producing dairy herds. Although cooling systems allow milk production to remain nearly constant throughout the year, fertility decreases during summer. Physiological counter-current heat transfer mechanisms maintaining brain/hypothalamic and reproductive functions in cattle are vulnerable to HS.
View Article and Find Full Text PDFFRED-EPI study: Safety and efficacy of FRED/FRED Jr aneurysm treatment in current clinical practice.
J Neuroradiol
January 2025
Departments of Neuroradiology, HCL, Lyon, France.
Objective: Flow diversion is increasingly used as an endovascular treatment for intracranial aneurysms. FRED-EPI is a prospective, multicenter, French study, conducted to analyze the safety and efficacy of aneurysm treatment with FRED/FRED Jr (Microvention, AlisoViejo, CA, USA) in current clinical practice.
Patients And Methods: Patients with intracranial aneurysms treated with FRED and FRED Jr who agreed to participate were prospectively and consecutively included in all French centers using these devices.
Quantitative susceptibility mapping of iron deposition in sporadic cerebral cavernous malformation-related epilepsy.
Epilepsia
January 2025
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Objective: To evaluate iron deposition patterns in patients with cerebral cavernous malformation-related epilepsy (CRE) using quantitative susceptibility mapping (QSM) for detailed analysis of iron distribution associated with a history of epilepsy and severity.
Methods: This study is part of the Quantitative Susceptibility Biomarker and Brain Structural Property for Cerebral Cavernous Malformation Related Epilepsy (CRESS) cohort, a prospective multicenter study. QSM was used to quantify iron deposition in patients with sporadic cerebral cavernous malformation (CCMs).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!