Research progresses in understanding the ...
Document type :
Article dans une revue scientifique: Article de synthèse/Review paper
DOI :
PMID :
Permalink :
Title :
Research progresses in understanding the pathophysiology of moyamoya disease
Author(s) :
Bersano, Anna [Auteur]
Guey, Stéphanie [Auteur]
Bedini, Gloria [Auteur]
Nava, Sara [Auteur]
Herve, Dominique [Auteur]
Vajkoczy, Peter [Auteur]
Tatlisumak, Turgut [Auteur]
Sareela, Marika [Auteur]
Van Der Zwan, Albert [Auteur]
Klijn, Catharina J. M. [Auteur]
Braun, Kees P J. [Auteur]
Kronenburg, Annick [Auteur]
Acerbi, Francesco [Auteur]
Brown, Martin M. [Auteur]
Calviere, Lionel [Auteur]
Cordonnier, Charlotte [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Henon, Hilde [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Thines, Laurent [Auteur]
Khan, Nadia [Auteur]
Czabanka, M. [Auteur]
Kraemer, Markus [Auteur]
Simister, Robert [Auteur]
Prontera, Paolo [Auteur]
Tournier-Lasserve, Elisabeth [Auteur]
Parati, Eugenio A. [Auteur]
Guey, Stéphanie [Auteur]
Bedini, Gloria [Auteur]
Nava, Sara [Auteur]
Herve, Dominique [Auteur]
Vajkoczy, Peter [Auteur]
Tatlisumak, Turgut [Auteur]
Sareela, Marika [Auteur]
Van Der Zwan, Albert [Auteur]
Klijn, Catharina J. M. [Auteur]
Braun, Kees P J. [Auteur]
Kronenburg, Annick [Auteur]
Acerbi, Francesco [Auteur]
Brown, Martin M. [Auteur]
Calviere, Lionel [Auteur]
Cordonnier, Charlotte [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Henon, Hilde [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Thines, Laurent [Auteur]
Khan, Nadia [Auteur]
Czabanka, M. [Auteur]
Kraemer, Markus [Auteur]
Simister, Robert [Auteur]
Prontera, Paolo [Auteur]
Tournier-Lasserve, Elisabeth [Auteur]
Parati, Eugenio A. [Auteur]
Journal title :
Cerebrovascular diseases (Basel, Switzerland)
Abbreviated title :
Cerebrovasc. Dis.
Volume number :
41
Pages :
105-118
Publication date :
2016-01-01
ISSN :
1015-9770
English keyword(s) :
Genetics
Moyamoya disease
Pathophysiology
Angiogenesis
Endothelial progenitor cells
Moyamoya disease
Pathophysiology
Angiogenesis
Endothelial progenitor cells
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
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 ...
Show more >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. CONCLUSIONS: 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. CONCLUSIONS: 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.Show less >
Show more >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. CONCLUSIONS: 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. CONCLUSIONS: 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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
CNRS
Inserm
Université de Lille
CNRS
Inserm
Université de Lille
Collections :
Research team(s) :
Troubles cognitifs dégénératifs et vasculaires
Submission date :
2019-11-27T14:30:48Z