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Genetics of Small Vessel Disease

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Stroke Genetics

Abstract

Cerebral ‘small vessel disease’ (cSVD) refers to a mixture of clinical, cognitive, neuroimaging, and neuropathologic abnormalities that arise from different pathologic processes in cerebral perforating arteries and arterioles, capillaries and venules. A major risk for stroke, it is now also seen as the major cause for vascular dementia. Nearly every person over age 80 years displays signs of cSVD, making it one of the hallmarks of normal and abnormal ageing. cSVD has been challenging to tackle mechanistically and genetically. Studies have been constrained by technical difficulties, including visualization of small blood vessels, standardized phenotyping, and access to tissue. Several genes discovered in monogenic disorders have been implicated in cSVD, consequentially these findings have also lead to improved options in diagnosing, advising, and managing patients. The following chapter will discuss current studies and findings in the genetics of cSVD along with their therapeutic implications.

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Authors and Affiliations

  1. Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-Universität, Munich, Germany

    Rainer Malik

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  1. Department of Neurology, Institute of Cardiovascular Research Royal Holloway College, University of London Imperial College London Healthcare NHS Trust, London, United Kingdom

    Pankaj Sharma

  2. Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA

    James F. Meschia

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Malik, R. (2017). Genetics of Small Vessel Disease. In: Sharma, P., Meschia, J. (eds) Stroke Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-56210-0_14

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  • DOI: https://doi.org/10.1007/978-3-319-56210-0_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-56208-7

  • Online ISBN: 978-3-319-56210-0

  • eBook Packages: MedicineMedicine (R0)

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