Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

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Bersano , A , Guey , S , Bedini , G , Nava , S , Herve , D , Vajkoczy , P , Tatlisumak , T , Saarela , M , van der Zwan , A , Klijn , C J M , Braun , K P J , Kronenburg , A , Acerbi , F , Brown , M M , Calviere , L , Cordonnier , C , Henon , H , Thines , L , Khan , N , Czabanka , M , Kraemer , M , Simister , R , Prontera , P , Tournier-Lasserve , E , Parati , E & European Moyamoya Dis Initiative 2016 , ' Research Progresses in Understanding the Pathophysiology of Moyamoya Disease ' , Cerebrovascular Diseases , vol. 41 , no. 3-4 , pp. 105-118 .

Title: Research Progresses in Understanding the Pathophysiology of Moyamoya Disease
Author: Bersano, Anna; Guey, Stephanie; Bedini, Gloria; Nava, Sara; Herve, Dominique; Vajkoczy, Peter; Tatlisumak, Turgut; Saarela, Marika; van der Zwan, Albert; Klijn, Catharina J. M.; Braun, Kees P. J.; Kronenburg, Annick; Acerbi, Francesco; Brown, Martin M.; Calviere, Lionel; Cordonnier, Charlotte; Henon, Hilde; Thines, Laurent; Khan, Nadia; Czabanka, M.; Kraemer, Markus; Simister, Robert; Prontera, Paolo; Tournier-Lasserve, E.; Parati, Eugenio; European Moyamoya Dis Initiative
Contributor organization: Clinicum
Neurologian yksikkö
Department of Neurosciences
Neurokirurgian yksikkö
Date: 2016
Language: eng
Number of pages: 14
Belongs to series: Cerebrovascular Diseases
ISSN: 1015-9770
Abstract: Background: The pathogenesis of moyamoya disease (MMD) is still unknown. The detection of inflammatory molecules such as cytokines, chemokines and growth factors in MMD patients' biological fluids supports the hypothesis that an abnormal angiogenesis is implicated in MMD pathogenesis. However, it is unclear whether these anomalies are the consequences of the disease or rather causal factors as well as these mechanisms remain insufficient to explain the pathophysiology of MMD. The presence of a family history in about 9-15% of Asian patients, the highly variable incidence rate between different ethnic and sex groups and the age of onset support the role of genetic factors in MMD pathogenesis. However, although some genetic loci have been associated with MMD, few of them have been replicated in independent series. Recently, RNF213 gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from RNF213 mutations to MMD clinical features are still unknown. Summary: The research on pathogenic mechanism of MMD is in its infancy. MMD is probably a complex and heterogeneous disorder, including different phenotypes and genotypes, in which more than a single factor is implicated. Key Message: Since the diagnosis of MMD is rapidly increasing worldwide, the development of more efficient stratifying risk systems, including both clinical but also biological drivers became imperative to improve our ability of predict prognosis and to develop mechanism-tailored interventions. (C) 2016 S. Karger AG, Basel
Subject: Moyamoya disease
Endothelial progenitor cells
RNF213 R4810K RS112735431
3124 Neurology and psychiatry
3112 Neurosciences
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion

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