Vis-à-vis

a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

Concetta Scimone, Luigi Donato, Silvia Marino, Concetta Alafaci, Rosalia D'Angelo, Antonina Sidoti

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)243-251
Number of pages9
JournalNeurological Sciences
Volume40
Issue number2
DOIs
Publication statusPublished - Feb 2019

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Central Nervous System Cavernous Hemangioma
Arteriovenous Malformations
Brain
Phenotype
Brain Diseases
Genetic Markers
Neuroimaging
Genes
Blood Vessels
Differential Diagnosis

Cite this

Vis-à-vis : a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. / Scimone, Concetta; Donato, Luigi; Marino, Silvia; Alafaci, Concetta; D'Angelo, Rosalia; Sidoti, Antonina.

In: Neurological Sciences, Vol. 40, No. 2, 02.2019, p. 243-251.

Research output: Contribution to journalArticle

Scimone, Concetta ; Donato, Luigi ; Marino, Silvia ; Alafaci, Concetta ; D'Angelo, Rosalia ; Sidoti, Antonina. / Vis-à-vis : a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis. In: Neurological Sciences. 2019 ; Vol. 40, No. 2. pp. 243-251.
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