Kirkham, F; (2020) Coagulopathies. In: Rosenberg, R and Pascual, J, (eds.) Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. (pp. 579-593). Elsevier

Text Coagulopathies_Kirkham_final_with_figures_refs_2019.pdf - Accepted Version Access restricted to UCL open access staff Download (272kB)

Abstract

Several genes predisposing to thrombosis have been identified and extensively investigated as contributors to the risk of stroke at all ages and of dementia and other neurodegenerative disorders in adults. This chapter discusses polymorphisms causing prothrombotic disorders that have been studied in case control studies, metaanalyses and genome-wide association studies in large populations, including those involving the fibrinogen gene, the prothrombin G20210A mutation, and Factor V Leiden mutation. The thermolabile variant of the methylene tetrahydrofolate reductase gene, often associated with hyperhomocysteinemia which has adverse effects on the vessel wall, is also discussed as it is included in many of the studies. Associations with cerebral venous sinus thrombosis, arterial ischemic stroke, hemorrhagic stroke, migraine with aura, and neurodenegeration are discussed together with the possible link with paradoxical embolus across a patent ovale as well as vascular mechanisms. There are complex interactions with environment for the risk of neuropsychiatric disease for all of these genes.

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