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Clinical Neuroscience

APRIL 20, 2002

[Genetics and hemostasis in young stroke patients]


[Background and purpose - The classical risk factors did not explain all the possible ethiology of cerebral stroke. Genetic polymorphisms responsible for thrombophilia were implicated recently as risk factors of stroke. In this geneticoepidemiological study the author’s aim was to analyse the tendency of genetic polymorphisms to cluster in a cohort of young and elderly stroke patients and in healthy subjects in Hungary. Methods - 253 patients with stroke were compared with 173 healthy blood donors on the basis of genetic polymorphisms of platelet GP IIb/IIIa receptor (33 LeuPro), prothrombin gene G20210A, Factor V Leiden mutation, ACE I/D, methylenetetrahydrofolate reductase (MTHFR) and β fibrinogen gene G455A. These data were acquired using PCR. Questionnaires were used to investigate the family history and to determine the risk factor profile. The subtypes of stroke were analysed in a stroke cohort grouped according to different polymorphisms. Results - An increased frequency of GP IIIa heterozygousity was found as compared to a West-European stroke cohort (31% versus 19%). The prothrombin gene variant (2.9% European and 4.8% in Hungary) was also found to increase in frequency. In young stroke patients (age <50) compared with control subjects the odds ratios were higher: in prothrombin gene (OR: 4.9), in Leiden mutation (OR: 1.67), in fibrinogen gene (OR: 1.64) and in MTHFR(+/+) (OR: 1.58). Clustering of two polymorphisms could only be detected in young patients. These clustering polymorphisms were GP IIb/IIIa with prothrombin G20210A variant (OR: 6.74, 95% CI 1.1-18.2) and prothrombin gene variant with MTHFR (OR: 5.3, CI95 1.2-8.3). Conclusion - Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.]

Clinical Neuroscience

JUNE 20, 2003

[Is there any importance of the Leiden mutation in the pathogenesis of ischaemic stroke?]

PONGRÁCZ Endre, TORDAI Attila, CSORNAI Márta, BÉLA Zsuzsanna, NAGY Zoltán

[Background - There are conflicting data about the role of Leiden mutation in the pathogenesis of cerebral arterial thrombosis. In order to obtain relevant data, authors investigated the prevalency of factor V Leiden (A506G) both in healthy subjects and in a subgroup of ischaemic stroke patients. Matherial and methods - Blood samples of 171 healthy persons and 254 ischaemic stroke patients were examined by PCR method for Leiden mutation. Ischaemic lesions in the stroke group were documented by CT or MRI. A routin questionnaire was used to study the family history of vascular events (hypertension, diabetes, POAD, stroke, myocardial infarction) of patients. Conventional vascular risk factors of patients were also documented. Results - The prevalence of Leiden mutation was 7.2% in healthy persons and 11.9% in stroke patients. The OR for 254 patient was 1,45 (0.71-2.97). In the subgroup of young patients: age <50 (n=134) the OR was 1.67 (0.75-3.70) and in the elderly patients group: age >50 (n=120) the OR was 1.21 (0.50-2.89). In the family history of stroke patients having Leiden mutation (hetero- and homozigosity) the stroke prevalence was higher (p=0.01). In the ischaemic stroke group, age<50 with polymorphism a tight correlation with hyperlipidaemia (p=0.03) was found. In the group of age<50 with heterozigosity for Leiden, a lower plasma fibrinogen concentration (p=0.02) was found. The polymorphism showed no correlation with the hypertension, hyperuricaemia, migraine, diabetes mellitus, smoking, alcohol consumption and CDS status of patients. Conclusion - When comparing stroke patients to control population there is no significant increase in the frequency of Leiden mutation. Leiden mutation together with hyperlipidaemia and stroke in the family history results in high risk for ischaemic stroke in young patients.]

Lege Artis Medicinae

DECEMBER 20, 2005



[The familial combined hyperlipidemia (FCH) is the most common form of heritable lipid disorder. The prevalence of FCH is 0.5 to 2.0% in the general population, and 15 to 20% in the survivors of myocardial infarction before the age of 60 years. Healthy people spend most part of their life in postprandial state, which is the sum of the 6-8 hours after each main meal spanning over 20 or 24 hour per day. After the ingestion of the fat rich meal the intestinal chylomicrons disturbs the balance of lipid metabolism. The disorder of the lipid transport does not always manifest itself in the fasting state when the lipid transport system is yet at poise. So, the measuring of fasting triglyceride does not reflect exactly the metabolic capacity and the true atherogen risk of the subject. The healthy FCH family members may have got abnormal higher and extended postprandial lipemia contrast of the normal fasting triglyceride levels. The distributions of PvuII and HindIII polymorphisms in FCH are different from normolipidemic controls. At the same time, there is significantly higher incidence of the apo e4 allele. The apo E4/3 genotypes have got higher and extended postprandial lipemia in FCH subjects. In the investigated international and Hungarian FCH groups have got the minor allele of apolipoprotein AV T/C polymorphism more frequently. The carrying status of the minor allele is accompanied with higher fasting lipid levels and associated with higher and extended postprandial lipemia. The Hungarian results suggest a decreased and extended catabolism of the remnants in FCH caused by apoAV T/C promoter variation that seems to have a more direct effect on the postprandial status than that of apoE 3/3-4/3 polymorphism. The knowledge of characteristics of postprandial lipemia influenced by the mutations of genes described by us are more useful as only the fasting triglyceride level and it is as effective as LDL- or HDL-cholesterol value in the measuring of prognosis of development of vascular disease with athero-thrombotic origin.]

Clinical Neuroscience

JUNE 20, 2002

[Investigation of insertion/deletion polymorphism of the ACE gene on stroke patients]


[Introduction - This is the first Hungarian paper on the insertion/deletion polymorphism of ACE gene in stroke patients. According to literature data, the role of this polymorphism is controversial in the pathogenesis of stroke. The aim was to study the prevalence of the polymorphism in healthy persons and in stroke patients. Patients and methods - Blood samples from 173 unrelated healthy donors and 253 stroke patients were investigated by polymerase chain reaction (PCR). Preivous stroke was documented by CT or MRI and CDS. A routine questionnaire was used to study previous vascular events and the risk profile of patients. Results - I/I allele was found in 20%, I/D 52% and D/D 28% in the healthy group. Prevalence of the pathologic D/D allele did not differ between healthy and patients group (28% and 27%, OR: 0.88, and in subgroup age under 50 years OR: 1.00). No correlation was found between D/D and conventional risk profile but a positiv correlation was found in young patients having D/D and hyperlipidemia (p<0.05) and hyperfibrinogenemia (p<0.05). D/D prevalence was found higher in patients with family anamnesis of myocardial infarction (p<0.05). Very low prevalence of D/D allele was found in cardiogen embolic group (p>0.05). Conclusions - The ACE polymorphism does not seem to be an independent risk factor for stroke. However, in young stroke patients with D/D allele, hyperlipidemia and/or hyperfibrinogenemia present very high risk for stroke.]

Clinical Neuroscience

DECEMBER 20, 2003

[Serotonin dysfunctions and the „Seven Deadly Sins”]

JANKA Zoltán

[The symbolic characters of the Seven Deadly Sins can be traced from time to time in the cultural history of human mankind, being directly specified in certain artistic products. Such are, among others, the painting entitled „The Seven Deadly Sins and the Four Last Things” by Hieronymus Bosch and the poems Divina Commedia and The Faerie Queene by Dante Alighieri and Edmund Spenser, respectively. However, there are several paragraphs referring to these behaviours of the Seven Deadly Sins in the Bible and in the dramas of William Shakespeare. The objective of the present review is to propose that dysfunctions in the central serotonergic system might be involved in the the neurobiology of these ’sinful’ behaviour patterns. Evidences indicate that behaviour traits such as Accidia (Sloth), Luxuria (Lust, Lechery), Superbia (Pride), Ira (Wrath, Anger), Invidia (Envy), Avaritia (Greed, Avarice), and Gula (Gluttony) can relate to the functional alterations of serotonin in the brain. Results of biochemical and molecular genetic (polymorphism) studies on the human serotonergic system (receptor, transporter, enzyme), findings of functional imaging techniques, effects of depletion (or supplementation) of the serotonin precursor tryptophan, data of challenge probe investigations directed to testing central serotonergic functions, alterations in the peripheral serotonin measures (platelet), and the changes in the CSF 5-hydroxy-indoleacetic acid content indicate such serotonergic involvement. Furthermore, results of animal experiments on behaviour change (aggressive, dominant or submissive, appetite, alcohol preference) attributed to serotonin status modification and the clinically evidenced therapeutic efficacy of pharmacological interventions, based on the modulation and perturbation of the serotonergic system (e.g. selective serotonin reuptake inhibitors), in treating the ’sinful’ behaviour forms and analogous pathological states reaching the severity of psychiatric disorders (depression, sexual disturbances, social phobia, impulsivity-aggression, obsessive-compulsive and related spectrum disorders, paranoid jealousy, eating disorders) all strongly suggest the possibility that brain serotonin dysfunctions might underlie the neurophysiology of the Seven Deadly Sins.]

Lege Artis Medicinae

OCTOBER 20, 2005



[The recent completion of the sequence of the human genome - thanks to the developments in biotechnology - has increased interest in genetics, but confusion remains about the role of genetic information in the medical practice. The role of genomics (a term coined only 15 years ago) in medicine is even more confusing. This review summarizes briefly the most important advances relating to the robust development in biotechnology, by which the practice of medicine has entered an era where the individual patient’s genome could help to determine the optimal approach to care, whether it is preventive, diagnostic, or therapeutic.]

Clinical Neuroscience

DECEMBER 20, 2002

[Relationship between the efficacy of atypical antipsychotics and polymorphism of dopamine D3 receptor in schizophrenia]

SZEKERES György, JUHÁSZ Anna, KÉRI Szabolcs, RIMANÓCZY Ágnes, SZENDI István, SZABÓ Zoltán, JANKA Zoltán

[Object - Numerous relevant variants of dopamine receptors have been identified in schizophrenia. The Ser9Gly gene polymorphism of dopamine D3 receptor is known as a susceptibility factor for the disease. In addition, it has a role in the modification of therapeutic effect of antipsychotics. In this naturalistic study the authors investigated the relationship between this polymorphism and the therapeutic response to atypical antipsychotics. Method - 75 patients with schizophrenia according to DSM-IV and 45 healthy controlls were recruited. The patients were divided to responder and nonresponder subgroups, cut-off: >20 point improvement in Global Assessment of Functioning. By polymerase chain reaction the genotype of dopamine D3 receptor of every participant was determined. Results - The Ser9Ser genotype of dopamine D3 receptor was more frequent in the nonresponder subgroup (64%, p=0.0018). The Ser9 allele was overrepresented among nonresponder patients (82%, p=0.0172). Conclusion - Based on our results, the worse therapeutic response to atypical antipsychotics is associated with Ser9 variant of dopamine D3 receptor.]