Clinical Neuroscience

[Molecular genetics of affective disorders]

SZABÓ Zoltán

OCTOBER 20, 2002

Clinical Neuroscience - 2002;55(09-10)



Further articles in this publication

Clinical Neuroscience

[Dezsõ Miskolczy, the founder of modern neurology in Hungary]


[Dezsõ Miskolczy, the founder of modern neurology in Hungary 2002;55(09-10)]

Clinical Neuroscience

[The role of transcranial magnetic stimulation in clinical diagnosis: motor evoked potential (MEP)]

ARÁNYI Zsuzsanna, SIMÓ Magdolna

[Transcranial magnetic stimulation allows painless, non-invasive stimulation, neurophysiological evaluation of nervous structure covered by bone or difficult to access for other reasons. In the clinical setting the technique is mainly used for the investigation of the corticospinal tract (motor evoked potential: MEP). Based upon our experience with patients examined over the course of four years, we have attempted to highlight the clinical situations, where diagnostic help is provided by this technique. MEP in general has proved to be a sensitive and reliable examination. Its significance is apparent mainly in situations where clinical signs of corticospinal tract dysfunction are not evident, or they are masked by lower motoneurone involvement, and where neuroimaging techniques are not informative. The demonstration of subclinical corticospinal lesion is often essential to establish the diagnosis in multiple sclerosis and amyotrophic lateral sclerosis. The technique however received little attention so far with respect to its role in the diagnosis of various spinal cord disorders, and in the demonstration of intact corticospinal function in case of weakness, psychogenic in origin. We have endeavoured to provide further evidence in support of this, and thereby advocating a wider clinical application of the technique.]

Clinical Neuroscience

[Anxiety in epilepsy - based on two case reports]

BARAN Brigitta, FARKAS Márta, RAJNA Péter

[There are a great number of psychopathological symptoms which manifest themselves in 70-75% of epileptic patients but most of them remain unrecognised and untreated. These symptoms may affect the patients’ quality of life more negatively than the epileptic seizures themselves. Anxiety is one of the most frequently occurring interictal psychopathological symptom. A number of specialists agree that chronic epilepsy causes the amplification of endogenic seizure suppressing mechanisms which hinder the epileptic seizures and are responsible for the development of interictal psychopathological symptoms. However the physiological effects of the interictal psychopathological conditions (e.g. anxiety) have epileptogenic effect as well. There is a high chance that the conditions of epilepsy and anxiety will mutually create a destructive vicious circle and it will be illustrated by our two case reports. In our experience, before modifying the pharmacotherapy of a patient suffering from chronic epilepsy with increased frequency of seizures, the anxiety level should be defined; and if it is high it should be treated first. From our perspective, the so-called ”rational bitherapy” is very effective when a high potential antiepileptic drug is combined with an anxiety reducing method. The latter can be drug related or consists only of psychotherapy. We need more controlled clinical research to prove that inside epilepsy there are risk groups as well as conditions of high risk when the connection between anxiety and epilepsy is more than evident. The described cases seem to indicate that the existence of periictal anxiety can be a risk factor in developing later interictal anxiety.]

Clinical Neuroscience

[Az epileptogén laesiók szerepe az interictalis és az ictalis epilepsziás működészavarban]


Clinical Neuroscience

[Informations for the candidates of the title of ”Doctor of the Hungarian Academy of Science”]


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Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.

Hypertension and nephrology

[Association between cyclothymic affective temperament and hypertension]


[Affective temperaments (cyclothymic, hypertymic, depressive, anxious, irritable) are stable parts of personality and after adolescent only their minor changes are detectable. Their connections with psychopathology is well-described; depressive temperament plays role in major depression, cyclothymic temperament in bipolar II disorder, while hyperthymic temperament in bipolar I disorder. Moreover, scientific data of the last decade suggest, that affective temperaments are also associated with somatic diseases. Cyclothymic temperament is supposed to have the closest connection with hypertension. The prevalence of hypertension is higher parallel with the presence of dominant cyclothymic affective temperament and in this condition the frequency of cardiovascular complications in hypertensive patients was also described to be higher. In chronic hypertensive patients cyclothymic temperament score is positively associated with systolic blood pressure and in women with the earlier development of hypertension. The background of these associations is probably based on the more prevalent presence of common risk factors (smoking, obesity, alcoholism) with more pronounced cyclothymic temperament. The scientific importance of the research of the associations of personality traits including affective temperaments with somatic disorders can help in the identification of higher risk patient subgroups.]

Journal of Nursing Theory and Practice

[The Effect of Asthma Bronchiale on Everyday life Activities Among Adolescents]

RÁCZ Viktória Kinga, HEGEDŰS Bianka Ágnes , SZEBENI-KOVÁCS Gyula , FERENCZY Mónika

[The aim of this study is to assess the relationship between the physical activity of asthmatics, sleep disorders, the extent of asthma treatment, and to assess the quality of life in terms of physical activity. We conducted our quantitative, cross-sectional survey between 2020-2021. In a non-randomized, comfort sampling the target group was defined as adolescents aged between 14–18 years, their diagnosis of asthma bronchiale had to be for at least 1 year ago. The data were collected by a self-prepared questionnaire, the domains included: socio-demographic questions related to physical activites, symptoms, sleep disorders, severity of asthma. We used miniAQLQ to assess quality of life. The statistical analysis were performed by using Microsoft Excel 2016 and SPSS v 24 programs. Descriptive statistics (mean, standard deviation, minimum, maximum), two-sample t-test, Chi-square test were performed. The mean age of the respondents was 16±1.51, 38% were boys and 62% were girls (N=105). There was no significant difference between physical activity and the frequency of seizures and sleep disorders (p>0.05). There is a significant difference between the genders and the symptoms increasing with intense exercise (p=0.02). We found significant correlation between the active participations in physical education classes and the severity of the disease (p=0.021). There is a significant correlation between moderate-, social activities and physical activity (p<0.05). Appropriate health education, recommendation in career choices as well as in physical activities done by nurses may lead to decrease in the number of suffocation attacks in cases of adolescents suffering from asthma bronchiale.]

Clinical Neuroscience

The effect of sniffing Turkish coffee on olfactory disorders in COVID-19 patients: An experimental clinical study


The current study aimed to examine the effect of sniffing Turkish coffee on the sense of smell in COVID-19 patients. This study utilized the experiment-control method. Data were collected using a patient and disease information form and the Connecticut Chemosensory Clinical Research Center (CCCRC) Test. An experimental group of patients sniffed Turkish coffee, and the coffee’s effect on the patients’ sense of smell was examined. All data were analyzed using SPSS version 25 (IBM). Of the patients in the experimental group, 25% had moderate hyposmia, 58.3% had severe hyposmia, and 16.7% had anosmia prior to sniffing Turkish coffee. After sniffing the Turkish coffee, 13.3% of these patients regained their ability to smell normally, while 18.3% had mild hyposmia, 45% had moderate hyposmia, 6.7% had severe hyposmia, and 16.7% had anosmia. There was no difference in the control group between first and second measurement. COVID-19 patients who sniffed Turkish coffee intermittently regained some of their sense of smell for one hour. Turkish coffee is cheap, fragrant, widely available, and easy to access. Therefore, results of this study suggest that it may be recommended for treating olfactory disorder in COVID-19 patients.

Clinical Neuroscience

Neuroscience highlights: Main cell types underlying memory and spatial navigation

KRABOTH Zoltán, KÁLMÁN Bernadette

Interest in the hippocampal formation and its role in navigation and memory arose in the second part of the 20th century, at least in part due to the curious case of Henry G. Molaison, who underwent brain surgery for intractable epilepsy. The temporal association observed between the removal of his entorhinal cortex along with a significant part of hippocampus and the developing severe memory deficit inspired scientists to focus on these regions. The subsequent discovery of the so-called place cells in the hippocampus launched the description of many other functional cell types and neuronal networks throughout the Papez-circuit that has a key role in memory processes and spatial information coding (speed, head direction, border, grid, object-vector etc). Each of these cell types has its own unique characteristics, and together they form the so-called “Brain GPS”. The aim of this short survey is to highlight for practicing neurologists the types of cells and neuronal networks that represent the anatomical substrates and physiological correlates of pathological entities affecting the limbic system, especially in the temporal lobe. For that purpose, we survey early discoveries along with the most relevant neuroscience observations from the recent literature. By this brief survey, we highlight main cell types in the hippocampal formation, and describe their roles in spatial navigation and memory processes. In recent decades, an array of new and functionally unique neuron types has been recognized in the hippocampal formation, but likely more remain to be discovered. For a better understanding of the heterogeneous presentations of neurological disorders affecting this anatomical region, insights into the constantly evolving neuroscience behind may be helpful. The public health consequences of diseases that affect memory and spatial navigation are high, and grow as the population ages, prompting scientist to focus on further exploring this brain region.