Slovo úvodem

prof. MUDr. Robert Rusina, Ph.D.

Neurol. praxi. 2025;26(1):3

Neurogenetika

prof. MUDr. Stanislav Šutovský, PhD.

Neurol. praxi. 2025;26(1):8

Genetics of epilepsies and current possibilities of their genetic diagnostics

Mgr. Natália Forgáčová, Mgr. Ingrid Lojová, RNDr. Ján Radvánszky, PhD., Mgr. Andrea Zaťková, PhD.

Neurol. praxi. 2025;26(1):9-16 | DOI: 10.36290/neu.2024.062

Epilepsy is a complex neurological disease that affects 40-60 million people worldwide. Multiple genetic factors play a significant role in the pathogenesis of epilepsy, leading to the growing importance of genetics in the field of epileptology. With the development of methodologies using massively parallel sequencing, many DNA variants causing epilepsy have been identified, improving our understanding of the molecular mechanisms involved in the clinical manifestations of genetically determined epilepsies. In this paper, we offer an overview of current but also future possibilities for genetic diagnostics of epilepsy, which, by identifying gene variants...

The genetics of Alzheimer's disease and dementia with Lewy bodies

prof. MUDr. Stanislav Šutovský, PhD., RNDr. Robert Petrovič, PhD., RNDr. Katarína Kolejáková, PhD., prof. MUDr. Peter Turčáni, PhD.

Neurol. praxi. 2025;26(1):17-23 | DOI: 10.36290/neu.2025.012

The genetics of neurodegenerative dementias is a turbulent topic. On the one hand, the number of genes involved in the pathogenesis of neurodegenerative processes is gradually increasing, on the other hand, the problem of interpretation of the results is emerging. Alzheimer's disease (AD) and dementia with Lewy bodies (DLB) represent currently well-defined clinical entities. AD has clearly defined causal genes (APP, PSEN1, PSEN2) and a major susceptibility gene (APOE). In addition to these, new susceptibi­lity genes are gradually emerging that modify the clinical picture, the age of onset and, together with APOE, create a complicated...

Genetics of frontotemporal dementia

prof. MUDr. Stanislav Šutovský, PhD., RNDr. Robert Petrovič, PhD., RNDr. Katarína Kolejáková, PhD., prof. MUDr. Peter Turčáni, PhD.

Neurol. praxi. 2025;26(1):24-30 | DOI: 10.36290/neu.2025.014

The disease currently known as frontotemporal dementia (FTD) has undergone a complex evolution from its first description by Arnold Pick and later by Alois Alzheimer, through the first clinicopathological criteria introduced by David Neary and David Mann, to its current nomenclatural perception as a complex clinicopathological entity. Currently, Frontotemporal lobar degeneration is viewed as a heterogeneous syndrome caused by progressive degeneration of the frontal and temporal lobes of the brain. Clinically, it can manifest as three syndromes of frontotemporal dementia (behavioral variant of FTD, progressive non-fluent aphasia and semantic dementia)...

Hereditary ataxias with onset after the age of 50

doc. MUDr. Martin Vyhnálek, Ph.D., MUDr. Emílie Vyhnálková, Ph.D., MUDr. Simona Karamazovová, MUDr. Zuzana Blichová, MUDr. Michaela Kuzmiak, Ph.D., MUDr. Jaroslava Paulasová-Schwabová, Ph.D.

Neurol. praxi. 2025;26(1):31-36 | DOI: 10.36290/neu.2024.070

Chronic ataxias with onset after the age of 50 differ significantly from ataxias with childhood or early adulthood onset. This article focuses on late-onset hereditary ataxias, particularly on new subtypes such as CANVAS (Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome) and SCA27B (Spinocerebellar Ataxia type 27B). It describes their clinical manifestations and diagnostic methods, including genetic testing and differential diagnosis against other sporadic ataxias, such as Multiple system atrophy type C. We present the main principles of diagnosing hereditary ataxias and the diagnostic approach used at the Center of Hereditary Ataxias...

Genetics of movement disorders - outline of current options and upcoming diagnostic trends for clinical neurologists

MUDr. Miriam Ostrožovičová, prof. MUDr. Matej Škorvánek, PhD.

Neurol. praxi. 2025;26(1):37-42 | DOI: 10.36290/neu.2024.081

Movement disorders represent a heterogeneous group of diseases, often with a monogenic background. Especially thanks to technological progress in the field of sequen­cing, there has been a significant shift in diagnostic algorithms for this group of diseases in recent years, where "next-generation sequencing" methodologies are increasingly being used. The review article presents a current view of the genetic diagnostics of movement disorders, current testing options and upcoming trends, with a particular focus on pragmatic testing algorithms.

Adult-onset inborn errors of metabolism with neurological manifestation

RNDr. Robert Petrovič, PhD.

Neurol. praxi. 2025;26(1):43-47 | DOI: 10.36290/neu.2025.009

The symptoms of the nervous system are very often associated with genetic diseases. Inborn errors of metabolism represent a heterogeneous group with more than 1000 disorders. These are rare disorders and some of them are also manifested by neurolo­gical symptomatology - called as neurometabolic diseases. Genetic diagnostics is based on variety of DNA techniques and enables reliable diagnosis of many diseases. Due to the wide range of inborn errors of metabolism only a selected part is presented. We focus on disorders which are manifesting in adulthood and can be positively influenced by causal therapeutic approach. The aim of the work is to provide...

Anliseizure medications and interaction

MUDr. Jana Zárubová

Neurol. praxi. 2025;26(1):48-53 | DOI: 10.36290/neu.2025.011

Pharmacological treatment of epilepsy is more and more complex, requiring comprehensive knowledge and clinical experience. Up to one-quarter of people with epilepsy take more than one antiseizure medication, and they have frequent comorbidities, as well as acute or chronic intercurrent diseases requiring the administration of other drugs. Pharmacokinetic and pharmacodynamic drug interactions are usually well described and information about them is easy to find. We know less about drugs' active influx/efflux transport both during their absorption from the gastrointestinal tract and their transfer across the blood-brain barrier. When choosing a combination(s)...

Verapamil in the preventative treatment of cluster headache

MUDr. Pavel Řehulka, Ph.D., PharmDr. MVDr. Vilma Vranová, Ph.D., PharmDr. Jitka Rychlíčková, MUDr. Martin Pešl, Ph.D.

Neurol. praxi. 2025;26(1):54-60 | DOI: 10.36290/neu.2025.001

Cluster headache is a primary headache disorder classified under trigeminal autonomic cefalalgias. Its treatment is based on empirical recommendations and includes acute, preventative and bridging treatment strategies, and complemented by neuromodulatory methodes. Verapamil is considered first-line preventative medication, although its use in cluster headache is off-label. The treatment should be started at the very beginning of the cluster period with an initial dose of 240 mg/day, prior it is mandatory to rule out contraindications and confirm that patient´s echocardiographic finding is normal. During the first week of treatment, the typical effective...

Study of gut microbiota in the context of neurological disorders

RNDr. Radka Roubalová, Ph.D., RNDr. Petra Procházková, Ph.D.

Neurol. praxi. 2025;26(1):61-66 | DOI: 10.36290/neu.2024.042

The gut microbiota has recently come to the forefront of scientific interest, particularly due to its broad spectrum of action not only on tissues that it comes into direct contact with, but also - through a variety of agents - on distant tissues and organs. There are a number of previously described mechanisms through which gut-colonizing microorganisms can affect the host's immune or endocrine systems as well as the central nervous system and behaviour of the host. A number of research teams are studying the microbiome in relation to neurological diseases, investigating the possible effect of specific microorganisms and microbial metabolites on the...

Cannabis as medicine

MUDr. Petra Mištríková

Neurol. praxi. 2025;26(1):68-71 | DOI: 10.36290/neu.2024.032

Hemp (Cannabis sativa) is a herb which was used for the production of canvas until the 19th century in Bohemia and Moravia. The progress in research focused on endocanabinoid system brings this herb into the focus again. Endocanabinoid system influences homeostasis of the whole organism due to modulation of neurotransmiter activity and subsequently the nociception, cognition, spasticity, sleep etc. Cannabinoid receptors are situated in the peripheral (CB2) and central nervous system (CB1), as well as in the connective tissue and immune system. The best-known effective molecules are delta-9-tetrahydrocanabinol (THC) and cannabidiol (CBD). I present...

General paresis - the cause of neurocognitive disorder at a young age

MUDr. Kamila Smolíková, MUDr. Pavel Potužník, Ph.D., MUDr. Jakub Vejskal

Neurol. praxi. 2025;26(1):72-75 | DOI: 10.36290/neu.2024.085

The infectious disease syphilis is among the most common sexually transmitted diseases worldwide. Due to the neuroinvasiveness of the infecting treponemal strain, patients can encounter a wide variety of central nervous system involvement, which can occur during any stage of the disease. This article reviews the different stages of syphilis and neurosyphilis. In the form of case report of a young patient, we describe the late stage of syphilis as general paresis.

Dorsal spinal cord infarction in a young adult female patient with patent foramen ovale and primary trombophilia

MUDr. Martin Richnavský, MUDr. Václav Boček, Ph.D.

Neurol. praxi. 2025;26(1):76-79 | DOI: 10.36290/neu.2024.037

We present a case report of a 34-year-old female patient, heterozygote f.V Leiden, affected by autosomal dominant polycystic kidney disease (AD PCKD), admitted for sudden onset of symptoms of a non-traumatic incomplete transverse spinal cord lesion at the Th4-5 level. Initial magnetic resonance (MR) imaging of the brain and whole spinal cord showed no focal changes. CT angiography was used to exclude aortic dissection. The CSF showed normal findings. On the third day, a follow-up MRI of the thoracic spinal cord showed a focus of myelopathy at approximately Th5 level. On the fifth day, this lesion was no longer significantly developed. We assessed the...

Dysphagia as one of the initial symptoms of multiple sclerosis in young patients

MUDr. Iva Šrotová, Ph.D., Mgr. Naděžda Lasotová, MBA, MUDr. Marcela Dubová, MUDr. Jan Kočica, Ph.D., MUDr. Zuzana Pazdičová

Neurol. praxi. 2025;26(1):81-84 | DOI: 10.36290/neu.2024.075

Multiple sclerosis is a chronic autoimmune disease affecting the central nervous system (CNS) and is characterized by inflammation, demyelination, gliosis, and neuronal loss. This condition manifests with a wide range of neurological symptoms, such as vision impairment, numbness and tingling, focal weakness, bladder and bowel dysfunction, and cognitive impairment. Swallowing disorders are among the symptoms that may be somewhat neglected but nevertheless greatly affect quality of life and overall health. Multiple sclerosis most often affects young adults aged 20-40 years. The disease is 2 to 3 times more common in women than in men. In this video case...