Moyamoya disease and syndromes: from genetics to clinical management

The Application of Clinical Genetics
Stéphanie GueyManoelle Kossorotoff

Abstract

Moyamoya angiopathy is characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of a network of abnormal collateral vessels. This chronic cerebral angiopathy is observed in children and adults. It mainly leads to brain ischemic events in children, and to ischemic and hemorrhagic events in adults. This is a rare condition, with a marked prevalence gradient between Asian countries and Western countries. Two main nosological entities are identified. On the one hand, moyamoya disease corresponds to isolated moyamoya angiopathy, defined as being "idiopathic" according to the Guidelines of the Research Committee on the Pathology and Treatment of Spontaneous Occlusion of the Circle of Willis. This entity is probably multifactorial and polygenic in most patients. On the other hand, moyamoya syndrome is a moyamoya angiopathy associated with an underlying condition and forms a very heterogeneous group with various clinical presentations, various modes of inheritance, and a variable penetrance of the cerebrovascular phenotype. Diagnostic and evaluation techniques rely on magnetic resonance imaging (MRI), magnetic resonance angiography (MRA) conventional angiography, and cerebral ...Continue Reading

Citations

Dec 15, 2015·Environmental Health and Preventive Medicine·Akio KoizumiShohab Youssefian
Jun 23, 2016·Iranian Red Crescent Medical Journal·Meltem ErolMahir Tiras
May 30, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Irene ToldoStefano Sartori
Apr 27, 2016·Neuro-Chirurgie·V JeckoC Champeaux
Mar 26, 2019·Stroke; a Journal of Cerebral Circulation·Lou GrangeonMarkus Kraemer
Feb 29, 2020·Microcirculation : the Official Journal of the Microcirculatory Society, Inc·Oliver SanderMarkus Kraemer
Jan 12, 2020·Journal of Medical Genetics·Chaker AlouiElisabeth Tournier-Lasserve
Dec 24, 2019·NeuroRehabilitation·Khushnoo K IndorewallaIrene Piryatinsky
Mar 28, 2017·Journal of Medical Genetics·Stéphanie GueyManoelle Kossorotoff
Jul 6, 2020·Practical Neurology·Andrea GioppoGiuseppe Faragò
Jul 8, 2016·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·R G EsinO R Esin
Jul 19, 2018·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Jolanta StrzeleckaSergiusz Jóźwiak
Aug 17, 2020·International Journal of Molecular Sciences·Francesca TinelliLaura Gatti
Feb 26, 2019·Journal of Neurology·Jonas GrafMarkus Kraemer
Nov 13, 2020·Frontiers in Neurology·Xiaoli SiJiali Pu
Jul 21, 2021·Biomechanics and Modeling in Mechanobiology·Shaolie S HossainAnanth Annapragada
Aug 28, 2021·Journal of Clinical Medicine·Isabella CanaveroAnna Bersano
Sep 21, 2021·Frontiers in Neurology·Brandon M FoxJohn E Wanebo

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Methods Mentioned

BETA
surgical bypass
exome sequencing

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