Egon Kurca

Martin University Hospital · Department of Neurology

Background DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. Case presentation We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this n...

Successful mechanical thrombectomy of the left superior cerebellar artery.

Introduction: Cardioembolic etiology is assumed to be the most frequent cause of cryptogenic strokes. The detection of subclinical paroxysmal atrial fibrillation (AF) is important in the correct choice of preventive treatment. The aim of this prospective study was to detect the incidence of AF in patients with a cryptogenic stroke or transient isch...

Contrast-induced encephalopathy (CIE) is a rare complication of the intravascular application of a contrast agent. CIE can be manifested by headache, cortical blindness, consciousness disorders, seizures, or focal neurological deficit. Neurological symptoms are typically transient with temporary abnormal findings on a brain scan. Urgent neuroimagin...

To determine whether systemic medical factors, such as vascular risk factors, metabolic and inflammatory markers contribute to cognitive decline in Parkinson’s disease (PD); if confirmed to determine whether a clinically applicable risk factor model can predict the conversion from normal cognition (NC) to mild cognitive impairment (MCI). 58 patient...

Multiple sclerosis (MS) is a disease characterized by overlapping processes of neuroinflammation and neuro-axonal degeneration. Disturbances of the hypothalamo-pituitary axis in MS are supposed to modulate neuroinflammatory circuits, however, there is insufficient knowledge about the hypothalamic metabolism alterations in early MS. This 1H MRS stud...

In this study, we analysed the association of rs703842 in CYP27B1 gene with multiple sclerosis (MS) risk and disability progression in a group of 496 MS patients and 521 controls. For the first time in Central European Slovak population, we found the rs703842 allele C to be protective factor against MS development (p = 1.09 × 10 ⁻⁵ ). Moreover, the...

Sub signum coma-súčasný pohľad na chronické poruchy vedomia Sub signum coma-cur rent view of chronic disorders of consciousnes s Súhrn Chronické poruchy vedomia sú novodobý fenomén. Rozpoznanie prvých známok kontaktu s okolím u pa cienta po období kómy je kľúčovým momentom z hľadiska prístupu pa cienta k rozšíreným možnostiam liečby a rehabilitácie...

Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration of genetics as more than 100 mutations in the CLCN1 gene and at least 20 mutations in the SCN4A gene...

Objective: In multiple sclerosis (MS), deep grey matter (DGM) atrophy has been recognised as a crucial component of the disease that presents early and it has been associated with disability. Although the precise mechanism underlying grey matter atrophy is unknown, several hypotheses have been postulated. Our previous research pointed to correlati...

Objective: It is still unclear as to why there are such large inter-individual variations in the risk and rate of disease disability progression of multiple sclerosis (MS). MS is a chronic autoimmune inflammatory disease of the central nervous system, with the involvement of autoimmunity, and inflammatory and neurodegenerative processes. In these p...

Aims: The aim of this study was to asses the platelet activation in the acute phase of ischemic stroke and transient ischemic attack (TIA) by defining p-selectin (CD62) expression by flow cytometry in vivo – without stimulation with agonists. We also studied whether antiplatelet therapy supresses the levels of baseline p-selectin expression and ver...

Objective The aim of our present study was to analyse the association of HLA-DRB1 and -DQB1 alleles and genotypes with Multiple Sclerosis (MS) disability progression in a cohort of Central European Slovak population. Methods The allele and genotype variants were analyzed in 282 non-related MS patients. Rate of disease disability progression was ev...

We report a family with a novel missense mutation in a LITAF gene (c348G > C p.Trp116Cys). One of the family members had a rapid stepwise deterioration of symptoms (subacute onset demyelinating asymmetric neuropathy of upper limbs ) in his 52 years. In patients with such kind of a rare mutation subacute or step progression can appear. Electrophysio...

Background: No treatment has consistently shown efficacy in slowing disability progression in patients with secondary progressive multiple sclerosis (SPMS). We assessed the effect of siponimod, a selective sphingosine 1-phosphate (S1P) receptor1,5modulator, on disability progression in patients with SPMS. Methods: This event-driven and exposure-...

Numerous studies document significant improvement in motor symptoms in patients with Parkinson's disease (PD) after deep brain stimulation of the subthalamic nucleus (STN-DBS). However, little is known about the initial effects of STN-DBS on nonmotor domains. Our objective was to elucidate the initial effects of STN-DBS on non-motor and motor sympt...

Background Co-occurrence of multiple sclerosis (MS) and glial tumours (GT) is uncommon although occasionally reported in medical literature. Interpreting the overlapping radiologic and clinical characteristics of glial tumours, MS lesions, and progressive multifocal leukoencephalopathy (PML) can be a significant diagnostic challenge. Case presenta...

Objectives: Disturbances in the hypothalamo-pituitary axis are supposed to modulate activity of multiple sclerosis (MS). We hypothesised that the extent of HYP damage may determine severity of MS and may be associated with the disease evolution. We suggested fatigue and depression may depend on the degree of damage of the area. Method: 33 MS pat...

Objective: The aim of our study was to determine the relation of particular genetic variants in selected genes (GSTM1, GSTT1 null genotypes; rs1695 GSTP1; rs10735781 EVI5) to the risk of multiple sclerosis (MS) development and find out the possible association with disease disability progression rate. Material and methods: Our study included 202 MS...

Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours. The most common subtype is EA type 2 (EA2) caused by pathogenic variants of calcium voltage-gated channel subunit alpha1 A gene (CACNA1A) on chromosome 19p13. Subjects and methods: We e...

Background: The causes of the individual differences in the rate of disability progression in multiple sclerosis (MS) are still not completely clear. According to the long-term prognosis of MS patients, the search for new valuable prognostic markers of "benign" or "malign" MS is necessary. Objectives: Our aim was to assess the possible associati...

Aims: This study aims to compare the safety and efficacy of heparin and nadroparin in order to provide an additional therapeutic option for patients with acute ischemic stroke in, whom systemic thrombolysis was excluded, or thrombectomy could not be performed. Methods: We describe a prospective randomized double-blind placebo-controlled pilot st...

In countries with high standard of living, lowered risk of infectious diseases is parallel to increased incidence of autoimmune diseases. One of the autoimmune disorders, multiple sclerosis, affects genetically susceptible individuals. Genetic susceptibility is supposed to interact with lifestyle and environmental factors in developing autoimmunity...

Objective: Vitamin D acts through vitamin D receptor (VDR) and has promising beneficial effects in the development and progression of multiple sclerosis (MS). The purpose of our study was to investigate the possible association of the VDR gene polymorphisms ApaI, BsmI and TaqI with the MS susceptibility and with the rate of disease disability prog...

Parkinson's disease (PD) is a multiple-system neurodegenerative disorder associated with typical alpha-synucleinopathy of Lewy type. It manifests clinically not only witli the typical motor symptoms but also with the so-called non-motor symptoms (NMS). Recent data indicate that the non-motor symptoms occur in up to 100% of patients suffering from P...

Aims: Freezing of gait is a disabling symptom in advanced Parkinson's disease. Positive effects have been suggested with MAO-B inhibitors. We report on an open label clinical study on the efficacy of rasagiline as add-on therapy on freezing of gait and quality of life in patients with Parkinson's disease. Methods: Forty two patients with freezin...

Background: Primary diffuse leptomeningeal gliomatosis (PDLG) is a very rare neuro-oncological disease, with only 90 cases of PDLG described in medical literature so far. Case presentation: We present a case report of a 56-years-old female patient, who was originally hospitalized due to cervical spine pain lasting several months. Despite complex...

Bilateral carotid artery stenting (BCAS) in one session is relatively rare procedure. However, clear recommendations still do not exist. The aim of our study was to analyze efficacy and safety of the BCAS performed by single operator in our center. A retrospective analysis of 95 carotid angioplasty with stent implantation (CAS) patients performed i...

Objective: The aim of the present study was to assess the association between HLA-DRB1 and -DQB1 allele groups with the genetic predisposition to multiple sclerosis (MS) in the Caucasian Central European Slovak population. Methods: A total of 282 unrelated patients with sporadic MS were enrolled in this case-control study. HLA-DRB1 and HLA-DQB1...

Traumatic brain injury (TBI) remains a major public health and socio-economic problem, and 70-90% of all TBIs are classified as mild. Mild TBIs and concussions are mostly considered to be non-serious conditions with symptoms subsiding within a few days or weeks. However in 10-15% of patients, the symptoms persist one year after concussion and mostl...

Cerebrovascular disorders, particularly ischemic stroke, are one of the most common neurological disorders. High rates of overweight and obesity support an interest in the role of adipose tissue and adipose tissue releasing cytokines in inducing associated comorbidities. Adipokines can serve as a key messenger to central energy homeostasis and meta...

Background Cardio-embolic etiology is the most frequently predicted cause of cryptogenic stroke/TIA. Detection of occult paroxysmal atrial fibrillation is crucial for selection of appropriate medication. Methods Enrolment of eligible cryptogenic stroke and TIA patients began in 2014 and will continue until 2018. The patients undergo long-term (12...

Case report. We report on a 52-year-old male patient with tumefactive demyelination of the spinal cord. University Hospital and Jessenius Faculty of Medicine, Comenius University, Martin, Slovakia. In contrast to relatively frequent tumefactive fulminant lesions in the brain, cases affecting the spinal cord in isolation have been reported less freq...

Receptor for advanced glycation end products (RAGE) triggers an intracellular signalling pathways of various proinflammatory ligands. Solubile form of RAGE (sRAGE) in human plasma can hinder the function of RAGE and can have the role in the pathogenesis of inflammatory diseases. In patients with multiple sclerosis (MS), altered level of sRAGE in pl...

Motor neurone diseases (MND) traditionally include a broad spectrum of neuromuscular disorders. First, we have to mention sporadic forms of ALS (amyotrophic lateral sclerosis) with mixed clinical presentation (syndromes with upper and lower motor neurone signs), then the isolated central type (primary lateral sclerosis, PLS) and at last the isolate...

In this study, we determined the association between rs6897932 in interleukin 7 receptor α (IL7Ra) gene and the risk and disability progression of multiple sclerosis (MS) in 270 MS patients and 303 controls. We found allele C to be associated with the risk of MS and minor allele T to be protective against MS development. Moreover, we revealed for t...

Objective: It is still unclear as to why multiple sclerosis (MS) is so devastating and rapidly progressive in one patient and less so in another. Recent data implicate vitamin D in modulation of the risk as well as the clinical course of disease. Since vitamin D acts through the vitamin D receptor (VDR), association of single nucleotide polymorphi...

Backround: The aim of our study was to assess the role of laser polarimetry and visual evoked potentials as potential biomarkers of disease progression in multiple sclerosis (MS). Participants: A total of 41 patients with MS (82 eyes) and 22 age-related healthy volunteers (44 eyes) completed the study. MS patients were divided into two groups, one...

Introduction: Standard brain magnetic resonance imaging (MRI) is typically normal in most patients after mild traumatic brain injury (MTBI). Proton magnetic resonance spectroscopy (¹H-MRS) is more sensitive to detect subtle post-traumatic changes. The aim of the study was to evaluate the clinical correlations of these changes in the acute phase (w...

Multiple sclerosis (MS) is a neurological disorder characterized by inflammatory demyelination and neurodegeneration in the central nervous system. Until recently, disease-modifying treatment was based on agents requiring parenteral delivery, thus limiting long-term compliance. Basic treatments such as beta-interferon provide only moderate efficacy...

Prolonged-release fampridine (fampridine PR) is a potassium channel blocker that improves conductivity of signal on demyelinated axons in central nervous system. Fampridine PR has been approved to improve speed of walking in patients with multiple sclerosis. This statement provides a brief summary of data on fampridine PR and recommendations on pra...

Introduction: There still is some debate about the relationship between handedness and speech in healthy subjects. We used focal transcranial magnetic stimulation (TMS) as a non-invasive method to determine hemispheric dominance and compared our results with several neuropsychological tests. Methods: 91 healthy subjects (age 26 ± 4.6) underwent neu...

Internal carotid artery (ICA) lesions in the parapharyngeal space (a dissection and a pseudoaneurysm) may present as isolated lower cranial nerves (IX, X, XI, and XII) palsy (Collet-Sicard syndrome). Some arteriopathies such as fibromuscular dysplasia and tortuosity make a vessel predisposed to dissection. Extreme vessel tortuosity makes the treatm...

Endovascular treatment for a wide-neck anterior communicating artery (AcomA) aneurysm remains technically challenging. Stent-assisted embolization has been proposed as an alternative of treatment of complex aneurysms. The X-configuration double-stent-assisted technique was used to achieve successful coiling of wide-neck AcomA aneurysm. Implanted st...

Fat tissue is an important endocrine organ that produces a number of hormones and cytokines (leptin, adiponectin, resistin, plasminogen activator inhibitor-1, Tumour necrosis factor TNF α) with essential roles in regulation of many physiological functions. We targeted implications of adipokines in ischemic stroke patients. Patients with acute strok...

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune peripheral nerve disease characterized by flaccid quadriparesis with loss of sensitivity and possible damage to cranial nerves. The diagnosis of CIDP nay involve electromyography (EMG), cerebrospinal fluid analysis, nerve biopsy, magnetic resonance imaging (MRI) of pe...

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder primarily affecting upper and lower motor neurons. Due to relative fast progression of the disease, early diagnosis is essential. Proton magnetic resonance spectroscopy ((1)H-MRS) is used for objectivization of upper motor neuron (UMN) lesions. The aim of this study was...

This work contains detailed information concerning Carpal Tunnel Syndrome (CTS). The epidemiology of CTS is discussed in the introduction while the epidemiological relationship to the professional aspect of CTS is the subject of another chapter. In the parts describing anatomy and pathogenesis, the focus is on an entire series of anatomical variati...

Objective To evaluate the efficacy and safety of BHT-3009 in relapsing-remitting multiple sclerosis (MS) and to confirm that BHT-3009 causes immune tolerance.MethodsBHT-3009 is a tolerizing DNA vaccine for MS, encoding full-length human myelin basic protein. Relapsing-remitting MS patients were randomized 1:1:1 into three groups: placebo, 0.5mg BHT...

Mild traumatic brain injury (MTBI) is a common neurotraumatologic diagnosis. It is possible to confirm objective cognitive impairment in MTBI patients not only by complex neuropsychological testing but also by event-related potentials (ERPs). The most common ERPs used in clinical practice are based on an oddball paradigm. Magnetic resonance imaging...

Unlabelled: Carpal tunnel syndrome (CTS) is the most common form of peripheral nerve entrapment. Electromyography with selected nerve conduction studies (NCS) is an accepted diagnostic tool in CTS patients. Ultrasonography presents a widely available and low cost investigation method and its position in CTS diagnostics needs further clarification...

Sarcoidosis is a granulomatous disease whose aetiology is not precisely known. It most often affects the lungs and the lymph nodes, less frequently the eye, bone marrow, the central and peripheral nervous system, the kidneys, the liver, the heart and muscles. In terms of pathomorphology, it comprises a deposit of lymphocytes and mononuclear phagocy...

Mild traumatic brain injury (MTBI) is a common neurological (neurotraumatological) diagnosis. As well as different subjective symptoms, many patients develop neuropsychological dysfunction with objective impairment of attention, memory and certain executive functions. Magnetic resonance imaging (MRI) is not routinely used in MTBI patients despite i...

Magnetic resonance imaging (MRI) may help identify acute stroke patients with a higher potential benefit from thrombolytic therapy. The aim of our study was to assess the correlation between initial cerebral infarct (CI) volume (quantified on diffusion-weighted MRI) and the resulting clinical outcome in acute stroke patients with middle cerebral ar...

The report has offered a survey of contemporary imaging methods applicable in the hyperacute phase of ischemic cerebrovascular accident. There are stressed especially the possibilities of each modality of computed tomography and of magnetic resonance imaging, their brief technical description and mainly practical clinical application. To have the f...

The authors have presented a literary survey dealing with a role of plasminogenplasmin system, system of matrixmetalloproteinases and other proteolytic systems in the pathogenesis of ischemic cerebral infarction. The activation of endogenous plasminogen activators (particularly urokinase activator of plasminogen) and system of matrixmetalloproteina...

Allgrove syndrome is a rare autosomal recessive disease with achalasia, alacrima, adrenocortical insufficiency, autonomic neuropathy and other neurological disturbances. A case of two brothers with Addison s disease from early childhood is presented. The younger brother with Addison disease died at the age of 5. The older brother was treated for ad...

Mild brain injury is one of the most common neurological a neurotraumatological diagnoses. The pathophysiological basis of mild brain injury is frequently a diffuse axonal damage of variable degree. In the acute phase of mild brain injury we have to identify 1% of patients who will undergo neurosurgery because of vital need. The analysis of patient...

Sympathetic skin response (SS) is a change of the potential recorded from the skin surface and it results from the activation of the peripheral as well as central parts of polysynaptic reflex circuits. SSR was studied in 53 patients with definitely established diagnosis of multiple sclerosis with relapsing-remitting (SM-RR), primary progressive (SM...

In Slovak genetic Creutzfeldt-Jakob disease patients with E200K mutation in the prion protein gene the mean duration of clinical stage is significantly shorter in methionine homozygous then in methionine / valine heterozygous patients (3.70±2.00 vs. 7.84±7.30 months). An atypical prolonged course (13 months) of Creutzfeldt-Jakob disease complicated...

There is an evidence of central nervous system (CNS) involvement in diabetic patients. The aim of the study was to determine a conduction slowing in CNS pathways using a transcranial magnetic stimulation (TMS) and F-wave latency measurement. Diabetic patients and a control group, both without clinical symptoms and signs of CNS lesion were evaluated...

Sympathetic skin response (SSR) represents a potential generated in skin sweat glands; it originates by activation of the reflex arch with different kinds of stimuli. The potential of rapid habituation after repeated stimuli is formed by biphasic or triphasic slow wave activity with relatively stable latency and variable amplitude. In healthy subje...

Introduction. Creutzfeldt-Jacob disease is a rare fatal neurodegenerative disease, the etiopathogenesis of which centers around prions. It is characterized by unrelentingly progressive course and specific findings on auxiliary examinations. The goal of the presented paper was to evaluate the occurrence of individual clinical signs and specific elec...

The authors present the case-history of a female patient with the adult form of metachromatic leukodystrophy. Metachromatic leukodystrophy is a rare hereditary disease with an autosomal recessive heredity, its cause being deficiency of the lysozome enzyme arylsulphatase A. The patient's disease was clinically manifested in early adult age (22 years...

Conservative treatment of overactive bladder employes behavioral or invasive neuromodulatory inhibition of miction reflex and administration of anticholinergic drugs. The aim of this study was to use non-invasive stimulation of the tibial nerve with the intention to achieve desired therapeutic effects without iatrogenic nerve damage using a superfi...

Chronic alcoholism is a medical, economical and social problem. Motility and mental function disorders are among the complications of chronic alcoholism and have been known for more than two centuries as "alcoholic paralysis", and are caused by alcoholic neuropathy. The pathogenesis of alcoholic neuropathy does not appear to be identical with centr...