Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.
Year: 2017
Type: article
Abstract: Genetic vascular disorders are usually present at birth;structurally, they tend to grow proportionately with thechild, and do not regress spontaneously. The malformations vary greatly in number, size, and location, and canalso occur in the context of syndromes. Cerebrovascularmalformations are defined as localized structural defectsof the vasculature, named after the type of vessel affected [1]. Although the majority of vascular malformationsare sporadic, a small proportion may be inherited.Due to the relative rarity of cerebrovascular malformations and the broad spectrum of possible complications,much of the evidence for genetic etiology comes fromsingle studies conducted in small and homogenous populations.With the advances of molecular technologies and medical research, genetic testing for a more proactive andprecise clinical management is becoming a cornerstonein the diagnostic workup for patients, especially for neurological diseases.The prevalence of intracranial vascular malformationhas been shown to be increasing over time. This isbelieved to be due to the advancement in radiologicalprocedures. Many studies examining neurological syndromes have aimed at early identification of intracranialmalformations, to prevent possible complications. Withthe advancement of medical genetics, represented by therecent breakthrough of whole exome sequencing, theproportion of neurological disorders that can be attributed to identifiable genetic mutations is increasing.Vascular malformations are believed to result from asomatic mutation creating a mosaic clinical phenotype,in which two genetically distinct populations of cellsexist within the same individual [2]. In this review, wereviewed published English language medical literature,describing genes related to the development of intracranial vascular disorders, with their perspective malformations. Since these genes play vital roles in the embryonicprocess of vasculogenesis, as well as the post-embryonicprocesses of angiogenesis and arteriogenesis, it is very difficult to assign genes to a specific anatomical or histological category. Therefore, we classified the geneticinformation in relation to the underlying histopathological manifestations.To simplify the classification process, and to make itmore attributable to clinical practice, we categorized theintracranial malformations based on their pathology,which can be histologically differentiated from oneanother based on the underlying molecular genetics.
Source: Europe PMC (PubMed Central)
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2992563006