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01-02-2019 | Review Article

Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

Authors: Concetta Scimone, Luigi Donato, Silvia Marino, Concetta Alafaci, Rosalia D’Angelo, Antonina Sidoti

Published in: Neurological Sciences | Issue 2/2019

Abstract

Cerebrovascular malformations include a wide range of blood vessel disorders affecting brain vasculature. Neuroimaging differential diagnosis can result unspecific due to similar phenotypes of lesions and their deep localization. Next-generation sequencing (NGS) platforms simultaneously analyze several hundreds of genes and can be applied for molecular distinction of different phenotypes within the same disorder’s macro-area. We discuss about the main criticisms regarding molecular bases of cerebral cavernous malformations (CCM) and brain arteriovenous malformations (AVM), highlighting both common pathogenic aspects and genetic differences leading to lesion development. Many recent studies performed on human CCM and AVM tissues aim to detect genetic markers to better understand molecular bases and pathogenic mechanism, particularly for sporadic cases. Several genes involved in angiogenesis show different expression patterns between CCM and AVM, and these could represent a valid starting point to project a NGS panel to apply for differential cerebrovascular malformation diagnosis.

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Title: Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis
Authors: Concetta Scimone
Luigi Donato
Silvia Marino
Concetta Alafaci
Rosalia D’Angelo
Antonina Sidoti
Publication date: 01-02-2019
Publisher: Springer International Publishing
Published in: Neurological Sciences / Issue 2/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-018-3674-x

At a glance: The STEP trials

Springer Medicine

Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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