Ischaemic strokes and homozygosity for the alpha2 807T allele of the platelet collagen receptor in young monozygotic twins.

Abstract

A nucleotide 807T variant of the glycoprotein Ia gene that correlates with increased platelet surface levels of the platelet collagen receptor alpha2beta1 was recently found to be associated with an increased risk of ischaemic stroke in younger patients. We report the history of twins who developed ischaemic strokes and were shown to be homozygous for the alpha2 807T allele. The twins developed ischaemic strokes at the ages of 23 and 33 years, one of them with recurrent events. They had no conventional risk factors. Cardiac and vascular investigations were normal and no aetiology could be found. There was a family history of cerebrovascular disease. Genotyping of glycoprotein alpha2 C807 T was performed and both twins were found to be homozygous for the 807T allele. This allele probably contributed to the occurrence of strokes in these young men. Further prospective studies are needed to evaluate whether screening for this polymorphism should be considered in young patients with unexplained stroke, particularly when a positive family history was found.

• Authors: Abdullah Maakaroun, Sandra Regina, Benedicte Delahousse, Denis Saudeau, Yves Gruel
• Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (Blood Coagul Fibrinolysis) Vol. 14 Issue 1 Pg. 83-5 (Jan 2003) ISSN: 0957-5235 [Print] England
• PMID: 12544734 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2003 Lippincott Williams & Wilkins

Chemical References

• Integrin alpha2beta1

Topics

• Adult
• Alleles
• Blood Platelets (chemistry)
• Diseases in Twins (genetics)
• Family Health
• Genotype
• Homozygote
• Humans
• Integrin alpha2beta1 (genetics, physiology)
• Male
• Polymorphism, Single Nucleotide
• Stroke (genetics)
• Twins, Monozygotic