A clustering of unfavourable common genetic mutations in stroke cases

Acta Neurol Scand. 2000 Aug;102(2):124-8. doi: 10.1034/j.1600-0404.2000.102002124.x.


Objectives: The aetiological role of common genetic mutations was analysed in a subgroup of stroke patients.

Material and methods: A total of 406 patients were examined because of ischaemic stroke. After a detailed clinical scrutiny, 5 were found who did not exhibit any of the classical clinical risk factors. In this clinically homogeneous subgroup of stroke patients, the prothrombin A20210G, Hong Kong, Cambridge and methylenetetrahydrofolate reductase C677T (MTHFR C677T) mutations, angiotensin-converting enzyme polymorphism (ACE polymorphism) and apolipoprotein E (APO E) genotype were examined.

Results: In all 5 patients, the same type of clustering of three mutations was manifested. A heterozygous Leiden V mutation was observed in all 5 subjects, while a heterozygous MTHFR C677T mutation and an I/D genotype for ACE polymorphism were detected in 4 of them, and a homozygous D/D genotype and a homozygous MTHFR C677T mutation in 1. This type of clustering of the mutations was not observed in the remaining 401 stroke patients.

Conclusion: These results suggest that the Leiden mutation might possibly be an aetiological factor for stroke in a rare subgroup of patients who do not display any of the classical risk factors. The roles of ACE D polymorphism and the MTHFR C677T mutation in stroke, should also be taken into consideration in this subgroup of stroke patients. These unfavourable genetic factors might be aetiological factors if they are clustered together in a stroke patient not presenting any of the standard clinical risk factors.

Publication types

  • Case Reports

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / genetics
  • Adolescent
  • Adult
  • Alleles
  • Apolipoprotein E3
  • Apolipoproteins E / genetics
  • Brain Infarction / genetics
  • Brain Ischemia / genetics
  • Cluster Analysis
  • Factor V / genetics
  • Female
  • Gene Frequency / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Hungary
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Point Mutation / genetics
  • Polymorphism, Genetic
  • Risk Factors
  • Stroke / etiology
  • Stroke / genetics*
  • Thrombosis / complications
  • Thrombosis / genetics*


  • Apolipoprotein E3
  • Apolipoproteins E
  • factor V Leiden
  • Factor V
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase