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Other Monogenetic Stroke Disorders

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Stroke Genetics

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Abstract

As described throughout this book, most strokes occur secondary to the interaction of multiple genes in combination with both lifestyle and environmental factors, thereby making stroke a prototypical complex disease. While this may be true for most forms of ischemic and hemorrhagic stroke, there are several established monogenetic disorders (i.e., transmitted via Mendelian inheritance) that may present with stroke. In some situations, stroke can be the predominant clinical feature, while in others, stroke can occur infrequently. In this chapter, we will describe such disorders focusing on clinical manifestations (Table 10.1) and then present details regarding the established genetic and diagnostic testing (Table 10.2) that are available. Given the disparate relationships between these disorders and stroke, the disorders have been classified in Tables 10.1 and 10.2 based upon their predominant etiologic mechanisms, including large arterial diseases, small vessel diseases, hematological diseases, mitochondrial diseases, and connective tissue disorders. The disorders are presented in the same order in both tables. For completeness and ease of reference, we have also included several monogenetic disorders in our tables that have dedicated chapters elsewhere in this book, including MELAS syndrome (see Chap. 8), CADASIL syndrome (see Chap. 6), and sickle cell disease (see Chap. 9).

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Notes

  1. 1.

    http://www.omim.org/

  2. 2.

    http://www.ncbi.nlm.nih.gov/omim

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Authors and Affiliations

  1. Department of Neurology, Baltimore VA Medical Center and University of Maryland School of Medicine, Bressler Building, Room 12-006, 655 West Baltimore Street, Baltimore, MD, 21201-1559, USA

    John W. Cole M.D., M.S.

  2. Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA

    Christopher A. Stack M.D.

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  1. John W. Cole M.D., M.S.
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  2. Christopher A. Stack M.D.
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Correspondence to John W. Cole M.D., M.S. .

Editor information

Editors and Affiliations

  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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Cole, J.W., Stack, C.A. (2017). Other Monogenetic Stroke Disorders. In: Sharma, P., Meschia, J. (eds) Stroke Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-56210-0_10

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  • DOI: https://doi.org/10.1007/978-3-319-56210-0_10

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