Pathophysiology and genetic factors in moyamoya disease.

Abstract:

:Moyamoya disease is an uncommon cerebrovascular condition characterized by progressive stenosis of the bilateral internal carotid arteries with compensatory formation of an abnormal network of perforating blood vessels providing collateral circulation. The etiology and pathogenesis of moyamoya disease remain unclear. Evidence from histological studies, proteomics, and endothelial progenitor cell analyses suggests new theories underlying the cause of vascular anomalies, including moyamoya disease. Familial moyamoya disease has been noted in as many as 15% of patients, indicating an autosomal dominant inheritance pattern with incomplete penetrance. Genetic analyses in familial moyamoya disease and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. In this review, the authors discuss recent studies that have investigated possible mechanisms underlying the etiology of moyamoya disease, including stem cell involvement and genetic factors. They also discuss future research directions that promise not only to offer new insights into the origin of moyamoya disease but to enhance our understanding of new vessel formation in the CNS as it relates to stroke, vascular anomalies, and tumor growth.

journal_name

Neurosurg Focus

journal_title

Neurosurgical focus

authors

Achrol AS,Guzman R,Lee M,Steinberg GK

doi

10.3171/2009.1.FOCUS08302

subject

Has Abstract

pub_date

2009-04-01 00:00:00

pages

E4

issue

4

issn

1092-0684

journal_volume

26

pub_type

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