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Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle

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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.

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Acknowledgments

This work was supported by a grant from Heilongjiang Innovation Research Foundation for Graduate Studies (YJSCX2014-10HYD); a grant from the Heilongjiang Provincial Educational Department (12541431); a grant from Pharmacy College of Harbin Medical University and grants of National Natural Science Foundation of China (NSFC81271786, 81110378, 30970119, 81030029).

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The authors have declared that no competing interests exist.

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  1. Genomics Research Center (One of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin, China

    Christine Sam, Fei-Feng Li & Shu-Lin Liu

  2. HMU-UCFM Centre for Infection and Genomics, Harbin Medical University, Harbin, China

    Christine Sam, Fei-Feng Li & Shu-Lin Liu

  3. Department of Microbiology and Immunology, University of British Columbia, Vancouver, British Columbia, Canada

    Christine Sam

  4. Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, AB, Canada

    Shu-Lin Liu

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Sam, C., Li, FF. & Liu, SL. Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle. Metab Brain Dis 30, 1105–1116 (2015). https://doi.org/10.1007/s11011-015-9668-y

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