Genetic factors appear to be important in the pathogenesis of cerebrovascular disease. Various genetic prothrombotic defects of proteins regulating blood coagulation and lipid metabolism may well be possible risk factors of thrombotic diseases. These disorders include platelet dysfunction, protein C and protein S deficiency, APC resistance, and high levels of lipoprotein (a), factor V G1691 A, prothrombin G20210A and MTHFR C677T mutation. We studied 225 consecutive patients with ischaemic stroke or TIA occurring before 50 years, 186 presenting to the neurological division of Reggio Emilia, and 39 admitted to the neurological departments of Ravenna, Forli, Aosta, and Ascoli Piceno. Control subjects were recruited from 217 consecutive patients with non-vascular neurological disease and 59 healthy blood donors. The mean age of patients was 40.8±8.8 SD. In all patients brain CT and /or MR head imaging was performed, as well as extracranial duplex ultrasonography and transthoracic or transoesophageal echocardiography. The patients were divided into pathogenic subtypes: atherosclerotic or large vessel disease (carotid or vertebral artery stenosis), cardioembolic, vascular non-atherosclerotic disease, small artery disease, haematologic or oral contraceptive cause, or indeterminate cause. Results Test Patients Controls P value Positive Positive Negative Negative HPA-1a/HPA-1b 70(34.85%) 131(65.2%) 79(27.2%) 212(72.9%) 0.13 Protein C <50% 3(1.7%) 169(98.3%) 0 85(100%) 0.54 Protein S 30 107(67.7%) 51(32.3%) 66(43.7%) 85(56.3%) 0.004 Prothrombin G20210A m 6(4.5%) 127(95.5%) 0 77(100%) 0.059 MTHFR C677T mutation 134(70.9%) 55(29.1%) 76(51.7%) 71(48.3%) 0.073 Factor V G1691A mutation 6(3.1%) 185(96.9%) 0 92(100%) 0.086 No association was found between the HPA1 a polymorphism of glycoprotein receptor; however, subgroup analysis showed that the HPA-1 a polymorphism appeared to be associated with stroke risk among patients with indeterminate stroke (P=0.001), with small artery deseases (P=0.02), and with carotid stenosis >50% (P=0.01). The Lp(a) is significantly associated with stroke risk, and for other data there were no statistically significant differences for patients and control, but the increased frequency of protein C and S deficiency, and mutation of prothrombin. MTHFR, and factor V in the patients support for a role of these factors in cerebral ischaemia.
|Issue number||4 SUPPL.|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Clinical Neurology