Slovo úvodem

prof. MUDr. Ivan Rektor, CSc., FCMA, FANA, FEAN

Neurol. praxi. 2024;25(1):3  

Prionová onemocnění

prof. MUDr. Egon Kurča, PhD., FESO, prof. MUDr. Radoslav Matěj, Ph.D., editoři hlavního tématu

Neurol. praxi. 2024;25(1):8  

Human prion diseases in the Czech Republic: 22 years of experience of the National Reference Laboratory for the Diagnosis of Prion Diseases

MUDr. Nikol Jankovská, Ph.D., prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(1):9-14 | DOI: 10.36290/neu.2024.002  

Human prion diseases (TSEs) are a group of progressive fatal neurodegenerative di­seases caused by aggregation of pathologically conformed prion protein in nervous tissue. Due to the risk of transmission, they are subject to active surveillance - in the Czech Republic, the data are centralized in the National Reference Laboratory for the Diagnosis of Prion Diseases (NRL) at the Institute of Pathology and Molecular Medicine of the Third Faculty of Medicine of Charles University and FTN. All cases of clinically possible or probable TSEs are subjected to a mandatory auto­psy at the NRL according to a standardized protocol. Since the beginning of the NRL...

Trends in the occurrence of Creutzfeldt­‑Jakob disease in Slovakia in the years 2007-2022

RNDr. Dana Žáková, PhD., PhDr. Martin Štelzer, MUDr. Alžbeta Janáková, Ing. Silvia Koščová, Mgr. Katarína Melicherová, Ing. Zuzana Szarvasová, MVDr. Girma Belay, CSc.

Neurol. praxi. 2024;25(1):15-18 | DOI: 10.36290/neu.2023.078  

Creutzfeldt-Jakob disease (CJD) is rapidly progressive, incurable neurodegenerative disorder which belongs to the group of prion diseases. The presented study focuses on the occurrence of each form of CJD in Slovakia and analyses its trends during the years 2007-2022. A total of 6685 samples (3127 blood samples, 3155 cerebrospinal fluid samples, 403 samples of frozen and fixed brain tissue) were examined in the given period. The final diagnosis of CJD was confirmed in 287 cases. The genetic form of the disease with E200K mutation on the prion gene was encountered in 74 % of all cases, 26 % was the sporadic form of CJD. Incidence of the disease has...

Human prion diseases - state of the art 2023

prof. MUDr. Egon Kurča, PhD., FESO, doc. MUDr. Štefan Sivák, PhD., MUDr. Pavol Skáčik

Neurol. praxi. 2024;25(1):19-25 | DOI: 10.36290/neu.2024.005  

Human prion diseases are a distinct group of fatal neurodegenerative diseases. Creutzfeldt-Jakob disease (CJD), a prototype of rapidly developing dementia, is the main representative. The article deals with the clinical and genetic correlates of CJD with an emphasis placed on the identification of genetic forms, including genetic counselling. In the case of acquired prion diseases, an interesting fact is the cessation of occurrence of kuru and variant CJD when targeted epidemiological measures have resulted in disrupting the transmission pattern of the pathological prion protein (PrPSc). As far as rare genetic prion diseases are concerned, the rarely...

Progress in intravital laboratory diagnostics of prion diseases: highly sensitive and specific detection of prions in cerebrospinal fluid using RT-QuIC

doc. Ing. Karel Holada, Ph.D., RNDr. Tibor Moško, Ph.D., Mgr. Soňa Baranová, prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(1):26-29 | DOI: 10.36290/neu.2023.079  

Diagnostics of prion diseases is difficult due to their heterogeneity and overlap of clinical symptoms with other neurodegenerative disorders. Till now utilized diagnostics methods did not have sufficient sensitivity and specificity. In 2018 WHO diagnostic criteria were updated by the inclusion of RT-QuIC assay (Real Time Quacking Induced Conformation), which utilizes the ability of prions to aggregate native recombinant prion protein for their detection. The aggregation is monitored in real time using fluorescent probe. The assay is extremely sensitive and specific. Our results confirms that it allows detection of prions in cerebrospinal fluid of...

Creutzfeldt-Jakob disease in the northern part of central Slovakia: a retrospective analysis of a patient cohort in the years 2006 to 2023

MUDr. Pavol Skáčik, prof. MUDr. Egon Kurča, PhD., FESO, doc. MUDr. Štefan Sivák, PhD., RNDr. Dana Žáková, PhD., MUDr. Alžbeta Janáková, MUDr. Marián Kyčina, Mgr. Erika Hlavatá, Mgr. Martina Danišková

Neurol. praxi. 2024;25(1):30-35 | DOI: 10.36290/neu.2024.006  

Introduction: Creutzfeldt-Jakob disease (CJD) is a fatal, rapidly progressive neurodegenerative disease, pathologically characterized by spongiform vacuolation of brain tissue. From the global perspective, the Slovak Republic is a country with exceptionally high rates of CJD. Material and methods: In the present study, we conducted a retrospective analysis of a cohort of CJD patients over a period of time of nearly 18 years (2006 to 2023). Demographic data, epidemiological history, clinical course of the disease, and results of auxiliary tests were analysed. Results: After meeting the inclusion criteria, we defined a cohort of 56 patients with...

Creutzfeldt-Jakob disease phenocopy

prof. MUDr. Kateřina Menšíková, Ph.D., FEAN, MBA, prof. MUDr. Radoslav Matěj, Ph.D., MUDr. Kruznev Singh Nijhar, prof. MUDr. Petr Kaňovský, CSc., FEAN

Neurol. praxi. 2024;25(1):36-40 | DOI: 10.36290/neu.2023.085  

Creutzfeldt-Jakob disease (CJD) may have very heterogeneous clinical manifestations. At the same time, there is increasingly more neuropathological evidence of a growing number of cases whose presentation meets the clinical diagnostic criteria for possible CJD, but it is, in fact, not this disease; these CJD phenocopies, or mimics, are the most frequent cause of diagnostic error. The differential diagnosis of CJD is broad, encompassing a number of potentially treatable conditions; they can include various autoimmune, infectious, cancerous, and toxic-metabolic CNS disorders. CJD phenocopies are most commonly encountered in the case of neurodegenerative...

Comorbid Creutzfeldt-Jakob disease as a diagnostic diffuculty: a case report of combination of four different neurodegenerations with advanced vascular changes

MUDr. Nikol Jankovská, Ph.D., MUDr. Jan Waishaupt, doc. Ing. Karel Holada, Ph.D., prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(1):41-44 | DOI: 10.36290/neu.2024.001  

Creutzfeldt-Jakob disease (CJD) is an irreversibly fatal disease caused by a pathologically conformed prion protein. Although it can also occur at a younger age, it is found in a surprisingly high percentage in all age groups in comorbidity with other neuropathological entities. In many cases, the comorbidities can change the typical clinical symptomatology of patients and thus significantly complicate clinical diagnosis. We present the case report of a 75-year-old female patient, in whom definitive neuropathological examination revealed a combination of sporadic Creutzfeldt-Jakob disease, fully developed dementia with Lewy bodies, fully developed...

Ocrelizumab - what we know, what we can improve now, what we can improve in the future

MUDr. Martin Elišák, Ph.D.

Neurol. praxi. 2024;25(1):53-56 | DOI: 10.36290/neu.2024.008  

Ocrelizumab, as a monoclonal antibody against CD 20 lymphocytes, is one of the representatives of high efficacy therapy (HET). The paradigm shift in the treatment of multiple sclerosis from an escalation to an induction strategy (HET as first-line therapy), together with new indication restrictions on reimbursement, has led to a broadening of the spectrum of patients to whom we can offer this treatment early in the course of the disease. Multiple studies have confirmed that the use of HET in the early stages of the disease improves the prognosis of indicated patients not only by suppressing inflammatory activity but also by slowing progression. At...

Migraine and related disorders

MUDr. Jolana Mračková, Ph.D., MUDr. Rudolf Kotas, Ph.D.

Neurol. praxi. 2024;25(1):57-61 | DOI: 10.36290/neu.2023.071  

Various pathological conditions can present as comorbidities with migraine and include many groups - especially cardiovascular/cerebrovascular, psychiatric, neurological diseases, sleep disorders, metabolic and endocrinne, gastrointestinal, imunological diseases and chronic pain syndromes. Their mechanisms are mostly bidirectional. The presence of comorbidities can complicate diagnostic proces for migraine under certain circumstances. Most of the comorbidid pathologies are associated with higher frequency and higher intensity of migraine attacks. Treatment of migraine and comorbidities requires multidisciplinary approach and, if possible, elimination...

Ofatumumab in clinical practice

MUDr. Martin Elišák, Ph.D.

Neurol. praxi. 2024;25(1):62-65 | DOI: 10.36290/neu.2023.075  

The view of multiple sclerosis treatment is changing. The aim is to provide patients with highly effective treatment at an early stage of the disease. The number of patients on HET is growing, as is the range of drugs available, which now includes ofatumumab. Ofatumumab is a monoclonal antibody that targets CD20 lymphocytes. It has been shown to be highly and rapidly effective in suppressing inflammatory activity and, to some extent, disease progression without relapse. Although it is well tolerated and can be administered by the patient at home, it is still a selective immunosuppressive drug with potential side effects and thus the need for pharmacovigilance....

Buprenorphine as an innovation in the treatment of chronic pain

doc. MUDr. Jitka Fricová, Ph.D.

Neurol. praxi. 2024;25(1):66-68 | DOI: 10.36290/neu.2024.013  

The article discusses the possible causes of chronic pain with strong opioids , which can be accompanied by a number of complications if not managed professionally. Treatment of severe chronic pain cannot be imagined without strong opioids, but it is necessary to follow some simple recommendations for proper indication and monitoring of the whole course of treatment. In recent years, a new concept of classifying opioids based on their receptor mechanism of action has been promoted, and this concept may guide more gentle treatment with strong opioids, especially for non-cancer pain. The treatment of chronic pain with non-opioid analgesics is also risky...

Patient with myopathy… or not?

MUDr. Jana Junkerová, MUDr. Eva Kovalová, MUDr. Martin Sabela

Neurol. praxi. 2024;25(1):71-73 | DOI: 10.36290/neu.2023.080  

The clinical picture of the disease is a essential factor for determining the correct diagnosis and thus the treatment procedure. It is not uncommon that etiopathogenetically different processes can lead to outwardly visible symptoms. The similarity of the phenotype of hereditary myopathies and adult forms of spinal muscular atrophy (SMA) is known - mainly SMA III. type, Kugelberg-Welander, sometimes directly referred to as pseudomyopathic. In the light of the new possibilities of therapeutically influencing the SMA gene mutation, we remind you of the urgency of revising the diagnoses of adult patients who give the impression of myopaths. Diametrically...

Man who was unable to dive - typical course of Pompe's disease with late onset

MUDr. Lívie Mensová, MUDr. Daniel Baumgartner

Neurol. praxi. 2024;25(1):74-78 | DOI: 10.36290/neu.2024.003  

Pompe disease (PD, glycogenosis type II) is a rare genetically determined metabolic disease characterized by alpha-1,4-glucosidase (GAA, acid maltase) deficiency. Disease manifestations and life expectancy can be influenced by enzyme replacement therapy (ERT). Neuromuscular centers in Prague and Brno are implementing a project aimed at detecting previously unknown cases of Pompe disease and providing dispensary care and substitution therapy to the newly diagnosed patients. The article demonstrates the typical course of the late form of Pompe disease by means of the case report of a patient found thanks to the project.

Cannibals, slow viruses, Nobel Prize and young lads: the story of Daniel Carleton Gajdusek (1923-2008), laureate of the Nobel Prize in Physiology or Medicine (1976) and honorary doctor of Comenius University in Bratislava (1996)

prof. MUDr. Petr Kaňovský, CSc., FEAN, prof. MUDr. Radoslav Matěj, Ph.D., prof. MUDr. Kateřina Menšíková, Ph.D., FEAN, MBA, MUDr. Lucie Tučková, MUDr. Dominik Hraboš, prof. MUDr. Egon Kurča, PhD., FESO

Neurol. praxi. 2024;25(1):45-52 | DOI: 10.36290/neu.2024.012  

Daniel Carleton Gajdusek would turn 100 years old this year. A first-generation descendant of immigrants (father Slovak, mother Hungarian), Gajdusek was born in New York and studied medicine at prestigious universities, and earned a postgraduate degree as well. After serving in the military, he worked in Australia where he learned about the existence of a strange, fatal neurological disease in New Guinea. Without hesitation, he undertook an expedition there (accompanied by the district medical officer Vincent Zigas) during which he described kuru; he then devoted many years to the study of this disease. He managed to demonstrate its infectious origin...