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Cerebral venous sinus thrombosis associated with 20210A mutation of the prothrombin gene
  1. M W KELLETT,
  2. P J MARTIN,
  3. T P ENEVOLDSON
  1. The Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool, UK
  2. Department of Haematology, Royal Liverpool University Hospital, Prescot Street, Liverpool, UK
  1. Dr MW Kellett, The Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool L9 1AE, UK. Telephone 0044 151 529 4324; fax 0044 151 525 3857; emailmark.kellett{at}virgin.net
  1. C BRAMMER,
  2. C M TOH
  1. The Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool, UK
  2. Department of Haematology, Royal Liverpool University Hospital, Prescot Street, Liverpool, UK
  1. Dr MW Kellett, The Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool L9 1AE, UK. Telephone 0044 151 529 4324; fax 0044 151 525 3857; emailmark.kellett{at}virgin.net

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Predisposing factors can be identified in up to 80% of patients who develop cerebral venous thombosis (CVT).1 In many patients risk factors are acquired but 10 to 15% of patients may have inherited tendencies to thrombosis. Deficiencies of protein C, protein S, or antithrombin are reported in large series. The recently identified factor V Leiden mutation (FVR506Q) giving rise to activated protein C resistance is one of the most prevalent genetic mutations currently identified (10% to 15% of the white population),2 and it is now known to be an important risk factor for cerebral venous thrombosis.3-6 All of these thrombophilic tendencies, and particularly the factor V Leiden mutation, are compounded by other factors such as the oral contraceptive pill, pregnancy, pueperium, or immobility.

Prothrombin is a precursor of the serine protease thrombin and is a key enzyme in the process of haemostasis. Recently, a single nucleotide substitution (G to A) at position 20210 in the 3’ untranslated region of the gene encoding prothrombin has been identified.7 Its heterozygous state, 20210A, is a risk factor for the development of deep vein thromboses,7 8 and it has recently been implicated in …

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