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Coagulopathies

Coagulopathies
Coagulopathies

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, meta-analyses and genome-wide association studies in large populations, including those involving the fibrinogen gene, the prothrombin G20210A mutation, and the 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 neurodegeneration 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 risk of neuropsychiatric disease for all of these genes.

Cerebrovascular disease, Coagulation, Dementia, Migraine, Prothrombotic, Stroke, Thrombophilia, Venous sinus thrombosis
1223-1235
Elsevier Inc.
Kirkham, Fenella J.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58
Kirkham, Fenella J.
1dfbc0d5-aebe-4439-9fb2-dac6503bcd58

Kirkham, Fenella J. (2014) Coagulopathies. In, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., pp. 1223-1235. (doi:10.1016/B978-0-12-410529-4.00101-7).

Record type: Book Section

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, meta-analyses and genome-wide association studies in large populations, including those involving the fibrinogen gene, the prothrombin G20210A mutation, and the 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 neurodegeneration 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 risk of neuropsychiatric disease for all of these genes.

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More information

Published date: 13 November 2014
Keywords: Cerebrovascular disease, Coagulation, Dementia, Migraine, Prothrombotic, Stroke, Thrombophilia, Venous sinus thrombosis

Identifiers

Local EPrints ID: 424273
URI: http://eprints.soton.ac.uk/id/eprint/424273
PURE UUID: 47673427-1909-4dbf-adb2-5e81ba1e004c
ORCID for Fenella J. Kirkham: ORCID iD orcid.org/0000-0002-2443-7958

Catalogue record

Date deposited: 05 Oct 2018 11:35
Last modified: 09 Jan 2022 03:07

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