دورية أكاديمية
أعرض في EDS

Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.

التفاصيل البيبلوغرافية
العنوان: Cerebral cavernous malformations - An overview on genetics, clinical aspects and therapeutic strategies.
المؤلفون: Dulamea AO; Carol Davila University of Medicine and Pharmacy, 37 Dionisie Lupu Street, 020021 Bucharest, Romania; Fundeni Clinical Institute, Department of Neurology, 258 Fundeni Street, 022328 Bucharest, Romania. Electronic address: octaviana.dulamea@umfcd.ro., Lupescu IC; Carol Davila University of Medicine and Pharmacy, 37 Dionisie Lupu Street, 020021 Bucharest, Romania; Fundeni Clinical Institute, Department of Neurology, 258 Fundeni Street, 022328 Bucharest, Romania.
المصدر: Journal of the neurological sciences [J Neurol Sci] 2024 Jun 15; Vol. 461, pp. 123044. Date of Electronic Publication: 2024 May 12.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5883 (Electronic) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Amsterdam : Elsevier, <19 ->
مواضيع طبية MeSH: Hemangioma, Cavernous, Central Nervous System*/genetics , Hemangioma, Cavernous, Central Nervous System*/therapy, Humans ; Mutation
مستخلص: Cerebral cavernous malformations (CCMs) are abnormally packed blood vessels lined with endothelial cells, that do not exhibit intervening tight junctions, lack muscular and elastic layers and are usually surrounded by hemosiderin and gliosis. CCMs may be sporadic or familial autosomal dominant (FCCMs) caused by loss of function mutations in CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) genes. In the FCCMs, patients have multiple CCMs, different family members are affected, and developmental venous anomalies are absent. CCMs may be asymptomatic or may manifest with focal neurological deficits with or without associated hemorrhage andseizures. Recent studies identify a digenic "triple-hit" mechanism involving the aquisition of three distinct genetic mutations that culminate in phosphatidylinositol-3-kinase (PIK3CA) gain of function, as the basis for rapidly growing and clinically symptomatic CCMs. The pathophysiology of CCMs involves signaling aberrations in the neurovascular unit, including proliferative dysangiogenesis, blood-brain barrier hyperpermeability, inflammation and immune mediated processes, anticoagulant vascular domain, and gut microbiome-driven mechanisms. Clinical trials are investigating potential therapies, magnetic resonance imaging and plasma biomarkers for hemorrhage and CCMs-related epilepsy, as well as different techniques of neuronavigation and neurosonology to guide surgery in order to minimize post-operatory morbidity and mortality. This review addresses the recent data about the natural history, genetics, neuroimaging and therapeutic approaches for CCMs.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: Cerebral cavernous malformations; Phosphatidylinositol-3-kinase; Stereotactic radiosurgery; Surgery
تواريخ الأحداث: Date Created: 20240515 Date Completed: 20240611 Latest Revision: 20240612
رمز التحديث: 20240612
DOI: 10.1016/j.jns.2024.123044
PMID: 38749279
قاعدة البيانات: MEDLINE
الوصف
تدمد:1878-5883
DOI:10.1016/j.jns.2024.123044