TY - JOUR
T1 - Shared associations of nonatherosclerotic, large-vessel, cerebrovascular arteriopathies
T2 - Considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia
AU - Southerland, Andrew M.
AU - Meschia, James F.
AU - Worrall, Bradford B.
PY - 2013/2
Y1 - 2013/2
N2 - PURPOSE OF REVIEW: With ongoing advancements in noninvasive vascular imaging and high-throughput genomics, we have the opportunity to reclassify the cerebrocervical disorders by these shared associations, rather than their downstream events, and to better understand etiology, mechanism and preventive treatments going forward. RECENT FINDINGS: The common nonatherosclerotic, large-vessel arteriopathies affecting the cerebrovasculature include intracranial aneurysms, cervical artery dissection, fibromuscular dysplasia and moyamoya disease. Together, these entities contribute to a high incidence of devastating cerebrovascular outcomes, including ischemic stroke and subarachnoid hemorrhage, leading to long-term physical and cognitive disability frequently in young otherwise healthy adults. In addition to well reported clinical overlap, these polygenic phenotypes share epidemiological characteristics, environmental risk and a common pathological weakening of the arterial wall. SUMMARY: We reviewed both past and present studies relating these shared associations, including reported candidate gene analyses and genome-wide association data. We also catalogue recent descriptions of novel arteriopathic syndromes that add to the growing list of monogenic connective tissue disease affecting the arterial wall, and further inform our understanding of more common polygenic phenotypes. We also place these cerebrocervical arteriopathies in the context of other systemic nonatherosclerotic, large-vessel vascular disease (e.g. aortic aneurysm and dissection).
AB - PURPOSE OF REVIEW: With ongoing advancements in noninvasive vascular imaging and high-throughput genomics, we have the opportunity to reclassify the cerebrocervical disorders by these shared associations, rather than their downstream events, and to better understand etiology, mechanism and preventive treatments going forward. RECENT FINDINGS: The common nonatherosclerotic, large-vessel arteriopathies affecting the cerebrovasculature include intracranial aneurysms, cervical artery dissection, fibromuscular dysplasia and moyamoya disease. Together, these entities contribute to a high incidence of devastating cerebrovascular outcomes, including ischemic stroke and subarachnoid hemorrhage, leading to long-term physical and cognitive disability frequently in young otherwise healthy adults. In addition to well reported clinical overlap, these polygenic phenotypes share epidemiological characteristics, environmental risk and a common pathological weakening of the arterial wall. SUMMARY: We reviewed both past and present studies relating these shared associations, including reported candidate gene analyses and genome-wide association data. We also catalogue recent descriptions of novel arteriopathic syndromes that add to the growing list of monogenic connective tissue disease affecting the arterial wall, and further inform our understanding of more common polygenic phenotypes. We also place these cerebrocervical arteriopathies in the context of other systemic nonatherosclerotic, large-vessel vascular disease (e.g. aortic aneurysm and dissection).
KW - aneurysm
KW - arteriopathy
KW - artery dissection
KW - fibromuscular dysplasia
KW - genetic
KW - moyamoya
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UR - http://www.scopus.com/inward/citedby.url?scp=84872924291&partnerID=8YFLogxK
U2 - 10.1097/WCO.0b013e32835c607f
DO - 10.1097/WCO.0b013e32835c607f
M3 - Review article
C2 - 23302803
AN - SCOPUS:84872924291
SN - 1350-7540
VL - 26
SP - 13
EP - 28
JO - Current opinion in neurology
JF - Current opinion in neurology
IS - 1
ER -