In today's digital age, patients with multiple sclerosis (MS) are increasingly going online in search of information to help them manage this chronic disease. This article focuses on the different ways patients use digital media, including social networking sites, professional websites, mobile apps, and virtual communities, and their impact on quality of life, disease knowledge, and treatment decisions.

Hereditary neuromuscular disorders (NMD) are a broad group of diseases affecting peripheral nerves, muscles, or neuromuscular transmission. They are considered rare diseases with variable clinical presentation. A common feature of NMD is muscle weakness, which is progressive and can lead to respiratory failure in some patients. In the past, therapy for genetically conditioned NMD consisted only of symptomatic care without the possibility of influencing the natural course of the disease. A breakthrough occurred with the advent of gene therapy for spinal muscular atrophy (SMA). Progress has also been made in the treatment of muscular dystrophies. The effectiveness of gene therapy goes hand in hand with the availability of modern diagnostic methods such as next-generation sequencing or the use of newborn screening to detect asymptomatic patients.

Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare and underdiagnosed neurotransmitter disorder caused by autosomal recessive mutations in the DDC gene. The resulting enzyme deficiency leads to reduced synthesis of monoamine neuromodulators, causing severe impairment of motor, behavioral, and autonomic functions. Until recently, therapy was purely symptomatic, relying on dopamine agonists, monoamine oxidase inhibitors, and pyridoxine. The introduction of eladocagene exuparvovec gene therapy represents a major breakthrough. This stereotactically guided intraputaminal administration of an AAV vector carrying the functional DDC gene enables causal treatment with excellent clinical outcomes. The authors present an overview of this therapeutic approach for AADC-D.

Transthyretin amyloidosis (ATTR) is a severe, progressive multisystem disorder caused by the deposition of amyloid fibrils derived from pathologically unstable transthyretin in various tissues. Clinically, it most commonly manifests as rapidly progressive axonal sensory‑motor polyneuropathy with early autonomic nervous system involvement and/or cardiomyopathy. The development of disease‑modifying therapies, particularly gene "silencers" (molecules that suppress the expression of a specific gene at the mRNA level) based on small interfering RNAs (patisiran, vutrisiran) and antisense oligonucleotides (inotersen, eplontersen), has fundamentally changed the prognosis of affected patients. These agents reduce hepatic transthyretin synthesis, slow the progression of neuropathy or cardiomyopathy, and improve quality of life. This article summarizes the current options for genetic therapy of ATTR in the Czech Republic and discusses the perspectives of emerging therapeutic approaches.

Ocrelizumab (Ocrevus) is a humanized monoclonal antibody that was approved by the US Food and Drug Administration (FDA)on 28th March 2017 for the treatment of relapsing remitting multiple sclerosis (RRMS) and primarily progressive multiple sclerosis(PPMS) approved immunomodulatory treatment. European Medicines Agency (EMA) has recommended 10th November 2017OCR for the treatment of adult RRMS patients and early primary progressive MS patients in the European Union (EU) countries.In the Czech Republic, OCR was registered on 8th January 2017. The treatment is focused on mature B lymphocytes, immune cellsexpressing the protein CD20 molecule on their surface. It is believed that these CD20-positive B-lymphocytes are directed againstthe axons and myelin of healthy neurons, initiating a cascade of immune responses that lead to their damage and consequentlyto the disability in MS patients. This new view on MS pathogenesis was supported by evidence from a phase III, OPERA I, OPERAII and ORATORIO clinical trial.

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 diagnosed Gerstmann-Sträussler-Scheinker disease (GSS) as well as the unique fatal familial insomnia are discussed (FFI). The aim of the paper is to provide current information on human prion diseases.

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 a definitive or probable diagnosis of the disease. In 18 cases, there was the probable form of the disease (without histopathological confirmation, but with 100.0% positivity in E200K). Our cohort was almost completely predominated by the genetic form of CJD (96.4% of cases). The remainder was the sporadic form. The disease mostly occurred at the age of 50 to 70 years old, with females being affected more frequently than males. The clinical presentation was divided into four phenotypes: cerebellar, cognitive, behavioural, and atypical. Conclusion: The study has confirmed extremely high rates of CJD in the northern part of central Slovakia. In cases with a definitive diagnosis (confirmed histopathologically), the genetic form of CJD predominates clearly. Additional demographic, epidemiological, clinical, and paraclinical correlates of CJD are also presented.

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 diseases in which this atypical manifestation is associated, in the vast majority of cases, with the presence of mixed pathology. It is also for this reason that, in the future, we will certainly not do without reliable biomarkers capable of detecting relevant types of neurodegenerative processes in the brain.

Amyotrophic lateral sclerosis (ALS) is a fatal, rapidly progressive neurodegenerative disease that primarily affects motor neurons in the brain and/or spinal cord. In recent years, a number of new recommendations have been published regarding the diagnosis of ALS, including the approach to genetic testing of these patients, as well as the therapy or general comprehensive management of this disease and its complications and comorbidities. The aim of this article is to summarize these recommendations and the most important current knowledge about this very serious disease.

According to the definition of the European Medicines Agency, gene therapy is a treatment based on the insertion of a recombinant gene into a patient's body for therapeutic, prophylactic, or diagnostic purposes. In recent years, there has been a growing number of clinical studies as well as an increasing number of approved gene therapies, particularly for rare monogenic diseases. The first examples in the field of neurology include gene therapy for spinal muscular atrophy, gene therapy for primary disorders of biogenic amine synthesis (aromatic L-amino acid decarboxylase [AADC] deficiency), and gene therapy for metachromatic leukodystrophy. In the United States, gene therapy has also been approved for Duchenne muscular dystrophy and X-linked adrenoleukodystrophy. Clinical studies are already underway for gene therapy targeting Dravet syndrome, Leber's hereditary optic neuropathy, and certain types of mucopolysaccharidoses. Additionally, gene therapy is being investigated for some forms of limb-girdle muscular dystrophies and for amyotrophic lateral sclerosis (ALS) linked to the SOD1 gene. The effectiveness and side effect profile of gene therapy are always specific to the particular diagnosis and therapeutic product. The high financial cost and ethical considerations surrounding gene therapy remain subjects for broader societal discussion.

Migraine is a condition that occurs across all age groups. In the pediatric population, it is underdiagnosed compared to adults. Pediatric migraine has specific neurodevelopmental and clinical characteristics, and its diagnostic and therapeutic approaches differ partially from those used in adults. In this article, we aim to highlight these issues.We present some epidemiological data on migraine occurrence, migraine phenotypes in the pediatric population, diagnostic and treatment approaches, and practical insights, with a broader focus on treatment.

Multiple sclerosis is an autoimmune neurological disease that is very often diagnosed in women of childbearing age. Multiple sclerosis does not worsen the course of pregnancy; the risk of relapse is low during pregnancy, but increases after delivery. A key factor in the treatment of our patients is therefore pregnancy planning and therapy that stabilizes patients during pregnancy and postpartum and does not pose a risk to the fetus or newborn. Ocrelizumab (humanized anti-CD20 monoclonal antibody) administered before planned pregnancy and during lactation shows minimal transfer through the placental barrier and into breast milk, allowing according to recent studies for its safe use in women planning to become pregnant. In this article, we present two case reports of patients treated with highly effective therapy ocrelizumab before pregnancy and after delivery.

Chronic migraine (CM) is a neurological disease that remains underdiagnosed and difficult to treat. In the comparison with episodic migraine, patients with CM show a higher degree conditional functional limitation, reduced work productivity and quality of life. This personal and socioeconomic burden emphasizes the urgent need for adequate treatment. Although we commonly use a wide range of oral preventatives in the clinical practice, currently the only the Food and Drug Administration (FDA) approved treatment for CM prevention is onabotulinumtoxin A. In this review, we discuss history and present perspectives of this therapy.

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 in 2001 to 2022, 361 cases of sporadic or genetic TSEs were confirmed in the Czech Republic, including 10 rare cases of Gerstmann-Sträussler-Scheinker syndrome (GSS). Since January 2007, the NRL has been running a globally unique project to test the brain tissue of all corneal donors to increase the safety of corneal transplants. All 7950 samples of corneal donor brain tissue examined were negative for the presence of deposits of pathologically conformed prion protein.

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 an increasing trend in both forms of CJD, compared to earlier periods. The increase in incidence is statistically significant (p>0.001). This study also documents the increase in age of diseased persons, the average age at onset sCJD was 65.3 years, in the case of gCJD the age increase is statistically significant (61.9 years, p=0,003). Analysis of the occurrence of the disease from geographical point of view shows constant increased occurrence of gCJD in Žilina and Banská Bystrica regions. Sporadic CJD has increased occurrence in Bratislava, Trenčín and Banská Bystrica regions.

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 living patients shortly after the appearance of symptoms.

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 by transfer to primates, initially to chimpanzees. The disease's causative agent was discovered and named prion by Stanley Prusiner, only twenty-five years after Gajdusek's discovery. Gajdusek and Prusiner were awarded the Nobel Prize in Physiology or Medicine for their discoveries associated with prion diseases in the years 1976 and 1997, respectively. Later on, Gajdusek studied an endemic disease manifested by amyotrophic lateral sclerosis and parkinsonism with dementia in the southern part of eastern New Guinea. At home, in the United States, he worked at the NINCDS in Bethesda and accepted interns from all over the world. When he was 75 years old, he was accused of molesting three minor boys, originally children he had adopted and brought with him from the Pacific to the United States to obtain proper education; a total of 55 children had been adopted by him. He was sentenced to eighteen months in prison; after his release, he left for Europe where he spent the rest of his life, dying at the age of 85 years in Norway.

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 the same time, however, there are still questions about the individual response of patients to this therapy and the possible long-term side effects in particular. The aim of this article is to provide an insight into the current knowledge, current challenges and future perspectives in the use of ocrelizumab.

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 of risk factors.

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. The aim of this article is to alert neurologists to the practical aspects of treatment.

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 in terms of adverse effects and drug interactions if not managed professionally. Buprenorphine is a partial µ-receptor agonist and was previously available in transdermal patches for the treatment of moderate to severe chronic pain of both tumor and non-tumor origin, and currently buprenorphine patches containing 5, 10, 15, 20, 30 and 40 µg/h are coming to market in new dosages. Health insurance reimbursement is currently for the 5, 20, 30 and 40 µg/h strengths. They are indicated for the treatment of moderate non-cancer pain in adult patients in cases where opioid administration is required to achieve sufficient analgesia. The therapy has the advantage of easy patch manipulation with an extended replacement interval of 7 days and easy titration of the buprenorphine dose, the treatment is sufficiently analgesic effective and well tolerated by patients.

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 different are not only the genes affected by the mutation and the level of the motor pathway lesion, but above all the current treatment options.

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.

Ataxia-telangiectasia (AT) is an autosomal recessively disorder characterized by slowly progressive cerebellar ataxia, telangiectasia and heightended sensitivity to ionizing radiation. The condition often leads to immunodeficiency, presenting as recurrent respiratory infections. Other clinical manifestations may include oculomotor apraxia or extrapyramidal symptoms. Furthermore, patients are predisposed to hematological malignancies and solid tumors. In children under the age of 10, AT represents the most prevalent cause of progressive ataxia. This article aims to raise awareness of AT, providing an overview of its diagnosis and available options for symptomatic therapy. To illustrate these aspects, I present two case reports from our department.

Vestibular schwannoma (VS) is a benign intracranial tumor derived from myelinating Schwann cells of the vestibular division of the vestibulocochlear nerve. Vestibular schwannomas account for approximately 85 % of cerebellopontine angle tumors. It grows in the so-called transition zone of the internal auditory canal, from which it extends toward the brainstem and cerebellum. From this knowledge, the sequence of symptoms the patient develops can be deduced. The most common manifestations include unilateral hearing loss, tinnitus, and balance disorders. In most cases, VS growth is slow. The vast majority of VS (95 %) occur as sporadic tumors, with the remaining 5 % occurring as part of an inherited, autosomal dominant form of VS, mainly found in patients with neurofibromatosis type 2 (NF2).

The article presents the possibilities of rehabilitation care (specifically physiotherapy) for people with multiple sclerosis with severe neurological deficit (EDSS ≥ 7.0). Theoretical findings are illustrated with data from our pilot study of home physiotherapy in 4 patients.

Brain tuberculomas and tuberculous abscesses are rare focal manifestations of central nervous system tuberculosis. Their clinical and morphological presentation may mimic brain tumors or bacterial abscesses, and therefore be a source of diagnostic ambiguity. The goal of our presentation is to demonstrate two case reports of patients with a solitary lesion of tuberculous origin, and related diagnostic pitfalls. Despite the decrease in tuberculosis incidence in the Czech Republic, it is obvious that physicians may continue to encounter patients with immunosuppressive therapy and migrants from endemic regions. Regarding their relatively favorable therapeutic outcome, focal tuberculous lesions should be considered in the differential diagnosis of intracerebral expansions.

Stereotypies are repetitive, rhythmic, seemingly purposeless movement patterns. Primary stereotypies are typically described in healthy children with normal development, stereotypies with a trigger in adulthood are significantly rarer. The prevalence of primary stereotypies is reported between 3 and 8 %. Secondary stereotypies appear either as a result of sensory deprivation, social isolation or as part of broader syndroms in many, especially neurodevelopmental diseases, in psychiatric diseases or drug-induced syndromes. In the genesis of stereotypies, both neurobiological mechanisms, including genetic disposition, and the effects of the external environment and social interactions are considered. The basic therapeutic procedure are education and behavioral therapy, unfortunately there are no randomized, double-blind studies for pharmacological procedures.

John Charles Steele (1934-2022) was a Canadian neurologist who, together with Richardson and Olszewski, described a new nosological entity that was originally named epony­mously; however, over time, it became known as progressive supranuclear palsy. Later, he was concerned with epidemiological and clinical research on the endemic disease of amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam, documenting its occurrence, phenotypes, clinical manifestations, heredity, and decreasing incidence as well as prevalence. He also studied the pathophysiology of this disease, for years holding the view that it was a hereditary polygenic disease; it was only at the end of his life that he accepted the hypothesis which attributed the manifestation of the disease to chronic intoxication with neurotoxic compounds contained in cycad fruits: beta-methylamino-L-alanine (BMAA) and methylazoxymethanol (MAM).