Abstract
Neurovascular diseases are among the leading causes of mortality and permanent disability due to stroke, aneurysm, and other cardiovascular complications. Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Marfan syndrome are two neurovascular disorders that affect smooth muscle cells through accumulation of granule and osmiophilic materials and defective elastic fiber formations respectively. Moyamoya disease, hereditary hemorrhagic telangiectasia (HHT), microcephalic osteodysplastic primordial dwarfism type II (MOPD II), and Fabry's disease are disorders that affect the endothelium cells of blood vessels through occlusion or abnormal development. While much research has been done on mapping out mutations in these diseases, the exact mechanisms are still largely unknown. This paper briefly introduces the pathogenesis, genetics, clinical symptoms, and current methods of treatment of the diseases in the hope that it can help us better understand the mechanism of these diseases and work on ways to develop better diagnosis and treatment.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Brain / blood supply
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Brain / pathology
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CADASIL / diagnosis
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CADASIL / genetics
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CADASIL / therapy
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Cerebral Arteries / pathology*
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Cerebral Veins / pathology*
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Cerebrovascular Circulation / physiology
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Dwarfism / diagnosis
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Dwarfism / genetics
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Dwarfism / therapy
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Fetal Growth Retardation / diagnosis
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Fetal Growth Retardation / genetics
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Fetal Growth Retardation / therapy
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Humans
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Leukoencephalopathies / diagnosis
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Leukoencephalopathies / genetics
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Leukoencephalopathies / therapy
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Marfan Syndrome / diagnosis
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Marfan Syndrome / genetics
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Marfan Syndrome / therapy
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Microcephaly / diagnosis
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Microcephaly / genetics
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Microcephaly / therapy
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Moyamoya Disease / diagnosis
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Moyamoya Disease / genetics
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Moyamoya Disease / therapy
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Muscle, Smooth, Vascular / pathology*
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Osteochondrodysplasias / diagnosis
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Osteochondrodysplasias / genetics
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Osteochondrodysplasias / therapy
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Telangiectasia, Hereditary Hemorrhagic / diagnosis
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Telangiectasia, Hereditary Hemorrhagic / genetics
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Telangiectasia, Hereditary Hemorrhagic / therapy
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Vascular Diseases / diagnosis*
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Vascular Diseases / genetics*
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Vascular Diseases / therapy
Supplementary concepts
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Microcephalic Osteodysplastic Primordial Dwarfism, Type II
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Moyamoya disease 1