Risdiplam u dospělých pacientů se spinální muskulární atrofií: zkušenosti z klinické praxe - Publikujeme v zahraničíLiterature reviews

MUDr. Olesja Parmová, Ph.D.

Neurol. praxi. 2026;27(2):152

Spastic paraplegia with neuropsychiatric abnormalities and the thin corpus callosum don´t forget about the hereditary spastic paraplegia type 11Video case reports

MUDr. Ján Necpál, PhD., MUDr. Bibiána Jeleňová, MUDr. Ján Kothaj

Neurol. praxi. 2026;27(2):156-161 | DOI: 10.36290/neu.2026.013

Hereditary spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. In addition to progressive spastic paraplegia, it also presents with various neuropsychiatric abnormalities and typical picture of thin corpus callosum on MRI. Parkinsonism or dystonia or typical ophthalmologic features with retinal degeneration, can sometimes also present. Typical combination of the HSP11 symptoms should lead to targeted genetic testing of the SPG11 variants. Complex management includes physiotherapy, treatment of spasticity, movement disorders and neuropsychiatric symptoms. In this case series, we present three short case reports coming...

From paresthesias to the diagnosis of spinal cord ischemiaCase report

MUDr. Natália Cvengrošová, MUDr. Pavel Potužník, Ph.D., MUDr. Ing. Radek Tupý, Ph.D.

Neurol. praxi. 2026;27(2):145-150 | DOI: 10.36290/neu.2025.068

Paresthesia, as a typical positive sensory symptom, is a common subjectively reported symptom in patients of all age groups. As they can be a manifestation of both central and peripheral nervous system disorders, differential diagnosis is not always straightforward. We describe the case of a young patient, with sudden onset of right-sided hemiparesthesia and objectively mild paresis of the right lower limb, in whom the nature of the difficulties, her young age, the results of imaging and laboratory examinations as well as the information about recent delivery initially led us to consider a possibility of multiple sclerosis. However, further investigation...

A battle for grey matter: is Ocrelizumab gaining an advantage?Trends in neuropharmacotherapy

MUDr. Simona Halúsková, Ph.D., MBA, MUDr. Miroslav Mareš, MUDr. Alena Martinková, MUDr. Linda Bláhová, MUDr. Věra Křivková, MUDr. Marek Klíma

Neurol. praxi. 2026;27(2):139-144 | DOI: 10.36290/neu.2026.018

Brain atrophy represents one of the most sensitive markers of neurodegeneration in multiple sclerosis (MS), and its extent closely correlates with long-term disability and cognitive performance. Grey matter atrophy and atrophy of deep brain structures are of particular importance, as they reflect ongoing neurodegeneration more accurately than traditional inflammatory measures. Ocrelizumab, a highly effective anti-CD20 therapy, has been shown to reduce disease activity and slow both global and regional brain tissue loss, including structures that are most vulnerable to neurodegeneration., with a possible impact on preserving the functional reserve of...

Novel therapeutic options in hereditary neurodegenerative cerebellar ataxiasTrends in neuropharmacotherapy

doc. MUDr. Martina Bočková, Ph.D., MUDr. Tomáš Boušek, MUDr. Jaroslava Paulasová-Schwabová, Ph.D., doc. MUDr. Martin Vyhnálek, Ph.D.

Neurol. praxi. 2026;27(2):133-138 | DOI: 10.36290/neu.2026.010

This review summarizes current options for both disease-modifying and symptomatic treatment of degenerative cerebellar ataxias, with a particular focus on two conditions that are significantly reshaping everyday neurological practice: Friedreich's ataxia (FA), with the recent availability of the targeted therapy omaveloxolone, and spinocerebellar ataxia type 27B (SCA27B), for which accumulating evidence supports the efficacy of 4-aminopyridine (4-AP).

The use of digital media as a source of information for patients with multiple sclerosisReview articles

MUDr. Iva Šrotová, Ph.D., MUDr. Sabina Vejrychová, MUDr. Marta Vachová, MUDr. Viktorie Svobodová

Neurol. praxi. 2026;27(2):130-132 | DOI: 10.36290/neu.2025.077

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.

Targeted silencing: antisense oligonucleotides and genetic forms ALSMain topic

MUDr. Daniel Baumgartner, Ph.D., MUDr. Adam Betík, doc. MUDr. Eva Vlčková, Ph.D.

Neurol. praxi. 2026;27(2):125-129 | DOI: 10.36290/neu.2025.084

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with limited therapeutic options. Tofersen, an antisense oligonucleotide targeting SOD1 mutations, represents the first approved gene therapy for ALS. Clinical studies demonstrated a significant biological effect through reduction of SOD1 protein and neurofilament levels, although short-term clinical benefit was not consistently confirmed. Long-term and real-world data suggest slowed disease progression, particularly when treatment is initiated early. Despite the occurrence of adverse events, the overall benefitrisk balance is considered favorable, as reflected by conditional...

Current genetic therapy options for transthyretin amyloidosisMain topic

prof. MUDr. Eva Vlčková, Ph.D.

Neurol. praxi. 2026;27(2):119-124 | DOI: 10.36290/neu.2025.082

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...

From genetic diagnostics to gene therapy in epileptologyMain topic

MUDr. Ondřej Horák, doc. RNDr. Lenka Fajkusová, CSc., doc. MUDr. Hana Ošlejšková, Ph.D.

Neurol. praxi. 2026;27(2):114-118 | DOI: 10.36290/neu.2026.021

The field of genetic epilepsies, and especially developmental and/or epileptic encephalopathies, has undergone literally revolutionary changes over the past 15 years. With the rapidly growing number of identified "epilepsy-associated" genes and the increasing understanding of the enormous genotypephenotype variability, modern molecular-genetic methods based on the principle of massive parallel sequencing have been developed and implemented in clinical practice. These methods make it possible to diagnose, etiologically classify, and clinically characterize a wide range of new monogenic entities, to better understand their pathogenetic basis, and, last...

Metachromatic leukodystrophy diagnostic and therapeutic optionsMain topic

doc. MUDr. Miriam Kolníková, PhD., MUDr. Klára Brožová, Ph.D.

Neurol. praxi. 2026;27(2):109-113 | DOI: 10.36290/neu.2026.007

Metachromatic leukodystrophy (MLD), caused by arylsulfatase A deficiency, is characterized by three clinical subtypes: late infantile, juvenile (early and late) and adult form. Regression of motor and mental functions with finding of leukodystrophy on brain MRI is the reason for further laboratory examination. The diagnosis of MLD is established by confirmation of arylsulfatase enzyme deficiency, finding of sulfatides in urine and subsequent genetic examination of pathogenic variants of the ARSA gene. Targeted therapy is allogenic hematopoietic stem cell transplantation (HSCT), which is used in patients with pre- and very early symptomatic forms of...

Hope through gene therapy: a modern approach to treating AADC deficiencyMain topic

MUDr. Martin Macháček, doc. MUDr. Hana Ošlejšková, Ph.D., doc. MUDr. Pavlína Danhofer, Ph.D.

Neurol. praxi. 2026;27(2):101-106 | DOI: 10.36290/neu.2026.012

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-based therapy for neuromuscular diseasesMain topic

MUDr. Aneta Podsedníková, MUDr. Lenka Juříková, Ph.D.

Neurol. praxi. 2026;27(2):96-99 | DOI: 10.36290/neu.2026.004

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...

Challenges and perspectives in the diagnosis of undiagnosed pediatric patients and an overview of therapeutic options in rare diseasesMain topic

MUDr. Kateřina Slabá, Ph.D., Mgr. Petra Pokorná, Mgr. Kamila Říhová, Ph.D., doc. MUDr. Regina Demlová, Ph.D., prof. RNDr. Ondřej Slabý, Ph.D.

Neurol. praxi. 2026;27(2):89-95 | DOI: 10.36290/neu.2026.017

Rare diseases represent a broad and heterogeneous group of disorders that are predominantly genetically determined. Currently, more than six thousand clinical entities have been identified, which collectively affect approximately 68% of the global population and pose a significant healthcare and socioeconomic burden. Major advances in molecular genetics, particularly the introduction of whole-exome and whole-genome sequencing, have markedly shortened the time to diagnosis and enabled the discovery of new genetic causes of disease. Nevertheless, approximately half of all patients remain without a causal diagnosis. At present, targeted causal therapy...

Genová léčba v neurologiiEditorial

doc. MUDr. Hana Ošlejšková, Ph.D.

Neurol. praxi. 2026;27(2):83

Diagnosis and treatment of myasthenic syndromes -commentary on the updated version of the German guidelinesComments

MUDr. Michaela Týblová, Ph.D.

Neurol. praxi. 2026;27(1):74-78 | DOI: 10.36290/neu.2026.009

The German guidelines are the first to have been developed following the introduction of novel therapeutic agents. Reimbursement of these therapies in the Czech Republic differs, as does the socioeconomic context. Nevertheless, the concept of extending clinicians' attention to all active forms of generalized myasthenia gravis, not only to refractory patients, clearly deserves consideration. Therefore, we present a very concise summary of the German guidelines in Czech for the professional community.

Diagnostic procedure in a patient with tremorFrom symptom to diagnosis

MUDr. Petr Hollý, Ph.D.

Neurol. praxi. 2026;27(1):70-73 | DOI: 10.36290/neu.2025.076

This article provides a clear guide for the differential diagnosis of patients presenting with tremor. It focuses on distinguishing the main types of tremor, their clinical features, diagnostic methods, and considerations. Emphasis is placed on recognizing signs that help differentiate essential tremor from Parkinson's disease or other neurological disorders. The article also includes a diagnostic flow chart to facilitate decision-making in clinical practice. It is intended for neurologists and other physicians encountering patients with movement disorders.

The Great Moravian Franz Gerstenbrand (1924-2017)From the History of Neurology

prof. MUDr. Petr Kaňovský, CSc., FEAN

Neurol. praxi. 2026;27(1):64-69

Franz Gerstenbrand (1924-2017) was born in Hof in Mähren to parents who were native South Moravians from the Znaim region; his father worked as a family doctor in Hof. Shortly after little Franz was born, the family returned to South Moravia because doctor Gerstenbrand found a job as a family doctor in Unter Tannowitz. This is where Franz Gerstenbrand spent the days of his childhood and youth, graduating from a grammar school in Nikolsburg. Immediately after graduation, he had to enlist in the army, was assigned to the air force, and spent the rest of the war as an operational fighter pilot. After the war ended, he was captured by the Western Allies...

Wing-beating tremor and double panda sign in a patient with Wilson's disease - case reportVideo case reports

MUDr. Martin Daniš, MUDr. Rastislav Lackovič, MUDr. Zuzana Jankovičová, MUDr. Petra Jungová, MUDr. Natália Keléšiová, MUDr. Georgi Krastev, PhD.

Neurol. praxi. 2026;27(1):61-63 | DOI: 10.36290/neu.2025.066

In this case report, we present a 51-year-old patient who sought medical help for approximately 3 years of complaints of impaired limb mobility and coordination, altered behavior, speech articulation disorders, and gait disorders. Magnetic resonance imaging of the brain in T2-weighted images showed pathological changes in the mesencephalon namely the "face of the giant panda" sign and also the rarer "double panda sign" in pons Varoli. These MRI findings were corresponding with a metabolic disease with copper accumulation. Laboratory tests confirmed decreased serum copper and ceruloplasmin levels. Following these results, increased urinary copper excretion...

Clinical presentation of purulent inflammation of central nervous system in possible autoimmune encephalitis with a good response to corticotherapyCase report

MUDr. Šárka Reischlová, MUDr. Kateřina Matějová

Neurol. praxi. 2026;27(1):56-60 | DOI: 10.36290/neu.2025.044

Encephalitis is a serious inflammatory disease of the brain that involves a complex differential diagnostic assessment due to the wide range of possible causes. This report presents a case of a 71-year-old patient who underwent neurosurgery and subsequently developed subacute cognitive deterioration and recurrent epileptic seizures. The diagnosis of autoimmune encephalitis was prolonged due to a premorbidly diagnosed and treated structural epilepsy and the detection of serous to purulent encephalitis, which presented an atypical cerebrospinal fluid profile. Due to the lack of evidence of an infectious cause and suspicion of autoimmune encephalitis,...

Multiple cerebral venous thrombosis under the guise of lactational psychosisCase report

MUDr. Ing. David Černík, MBA, Ph.D.

Neurol. praxi. 2026;27(1):53-55 | DOI: 10.36290/neu.2025.062

Cerebral venous thrombosis is a rarer cause of stroke. It can be a life-threatening condition. It mainly affects women, and pregnancy and the postpartum period are also significantly at risk. Lactational psychosis is a serious psychological condition in the postpartum period, in which the woman is dangerous to herself and the newborn baby. We present a case report in which the clinical picture of encephalopathy together with the symptoms of migraine attacks in the observed migraineur faithfully imitated lactational psychosis. Early diagnosis and treatment of multiple cerebral venous thrombosis reversed the unfavorable clinical development and prevented...

Speech and language impairments in people with multiple sclerosis - assessment and digital biomarkersFrom the boundary of neurology

Mgr. Lucie Nohová, Ph.D.

Neurol. praxi. 2026;27(1):46-52 | DOI: 10.36290/neu.2026.003

From a speech therapist's perspective, multiple sclerosis causes speech (dysarthria), voice (dysphonia), and language difficulties. Currently, automated analysis is increasingly used to assess voice, speech, and language deficits, as it is much more accurate than perceptual assessment or standard tests. Acoustic analysis can be used to detect features that might be potential biomarkers for the early detection of multiple sclerosis or indicators of the severity of the disease. The aim of this paper is to present speech and language deficits in people with multiple sclerosis, outline the possibilities for their assessment using available tools with automated...

Cluster headache - course of the attack and its clinical variants Cluster headache awareness day 2026Review articles

MUDr. Pavel Řehulka, Ph.D.

Neurol. praxi. 2026;27(1):40-44 | DOI: 10.36290/neu.2025.060

The aim of this review article is to provide information on the clinical course of cluster headache (CH). Individual attacks, cluster periods, and the long-term course of the di­sease show significant variability, which contributes to diagnostic delay. Notably, some of the CH variants are not uncommon: in a retrospective analysis of own cohort of 70 patients with CH, eight (11,4 %) did not meet the strict wording of the criteria defined by the International Classification of Headache Disorders (ICHD-3). Five patients (7,1 %) due to a change in symptom lateralization, one (1,4 %) due to atypical localization outside the first trigeminal branch (orofacial...

Carriers of dystrophinopathies - a neglected group of patientsReview articles

MUDr. Hana Drašnarová, MUDr. Livie Mensová, MUDr. Radim Mazanec, Ph.D.

Neurol. praxi. 2026;27(1):34-39 | DOI: 10.36290/neu.2025.052

Dytrophinopathies are X-linked genetic dysorders caused by Dystrophine gene mutation. The phenotypes of patients include the well-known forms of Duchenne and Becker muscular dystrophy, DMD-related dilated cardiomyopathy in men, but also less well-known and highly variable forms of dystrophinopathies in female carriers. The disease in women is most often caused by inactivation of chromosome X. It may be manifested as an isolated elevation of muscle enzymes tests, other female patients may suffer from severe muscle weakness, dilated cardiomyopathy or other extramuscular complications. The diagnostic method of choice is a molecular genetic examination...

Clinical relevance of CSF analysis in various neurodegenerative diseasesMain topic

MUDr. Zuzana André, MUDr. Barbora Gaštanová, MUDr. Andrea Kopániová, doc. MUDr. Karin Gmitterová, PhD.

Neurol. praxi. 2026;27(1):28-33 | DOI: 10.36290/neu.2025.022

Neurodegenerative diseases are broadly characterized by progressive damage of CNS with dementia being the most common clinical presentation. Several diseases fall into this category such as Alzheimer´s disease (AD), Parkinson´s disease (PD) and frontotemporal dementia (FTD). Coexisting brain pathology and clinical heterogeneity may hamper the diagnostic accuracy and delay effective treatment. Disease- specific biomarkers, alongside clinical features and imaging methods can substantially improve the diagnosis. Some of the most recent criteria rely on the involvement of CSF core biomarkers in the diagnostic work-up. Despite the distinct pathomechanism,...

Laboratory biomarkers of multiple sclerosisMain topic

MUDr. Kamila Žondra Revendová, Ph.D., MUDr. Ing. David Zeman, Ph.D., MUDr. Radovan Bunganič, MUDr. Kryštof Damián Švub, MUDr. Ondřej Pelíšek, doc. RNDr. Pavlína Kušnierová, Ph.D.

Neurol. praxi. 2026;27(1):22-26 | DOI: 10.36290/neu.2025.032

Laboratory biomarkers play a crucial role in the diagnosis, prediction, and monitoring of treatment efficacy in patients with multiple sclerosis (MS). Their use enables better individualization of therapy, increasing the chances of slowing disease progression and improving patients' quality of life. The most important diagnostic laboratory biomarkers in MS are oligoclonal IgG bands and free kappa light chains, while neurofilament light chains are essential for disease prediction and monitoring treatment efficacy. Research in this area is continuously evolving with the aim of discovering new indicators that further improve diagnostic accuracy and enable...

The importance of cerebrospinal fluid examination in the diagnosis and differential diagnosis of neuroinfectionsMain topic

doc. RNDr. Pavlína Kušnierová, Ph.D., MUDr. Petr Kümpel, MUDr. Mgr. Ivana Kohnová, Mgr. Karin Lichá, MUDr. Ing. David Zeman, Ph.D.

Neurol. praxi. 2026;27(1):15-21 | DOI: 10.36290/neu.2025.054

Cerebrospinal fluid analysis represents a key diagnostic instrument in confirming and differentiating various forms of CNS infections due to its ability to reveal specific cytologic, biochemical and microbiological changes. In cases where CNS infection is suspected, a basic cerebrospinal fluid examination includes the enumeration of nucleated cells and erythrocytes, the differentiation of nucleated cells into mononuclear and polymorphonuclear cells, and, if applicable, a detailed qualitative analysis from a permanent cytological slide. Furthermore, the determination of total protein, glucose and lactate concentrations and the coefficient of energy...

The use of flow cytometry in cerebrospinal fluid diagnosticsMain topic

Ing. Inka Matuchová, Ph.D., MUDr. Ondřej Sobek, CSc., MUDr. Lenka Ceprová, doc. MUDr. Iuri Marinov, CSc., prof. MUDr. Jaroslava Dušková, CSc.

Neurol. praxi. 2026;27(1):10-14 | DOI: 10.36290/neu.2025.041

Diagnosis of central nervous system (CNS) tumor involvement is a highly responsible and demanding discipline. Qualitative cytological examination of cerebrospinal fluid (CSF) plays a key role, particularly in meningeal tumor infiltrations, allowing the detection of morphological abnormalities of cells. Subsequent special staining immunocytochemical techniques and subsequent evaluation by a cytopathologist allow these atypical cells to be specified closer. If a tumor process originating from hematopoietic cells is suspected, immunophenotyping analysis is appropriate. In a limited sample, this allows the malignant leukocyte clone to be further characterized....

Neuroimunologie - úvodní slovoEditorial

Ing. MUDr. David Zeman, Ph.D.

Neurol. praxi. 2026;27(1):3-4

Od transplantace k fSCIGZaznělo na 4. české neurologické akademii v Plzni 23.-24. října 2025Zaznělo na

MUDr. Zuzana Zafarová

Neurol. praxi. 2025;26(6):527-530

NMOSD as a comorbidity of clinically silent Sjögren's syndromeCase report

MUDr. Tereza Strnadová, MUDr. Dalibor Zimek

Neurol. praxi. 2025;26(6):520-526 | DOI: 10.36290/neu.2025.045

NMOSD (Neuromyelitis optica spectrum disorders) is a group of rare inflammatory autoimmune demyelinating diseases affecting most commonly the optic nerve, brainstem and spinal cord. During diagnostic process is necessary to rule out multiple sclerosis and myelin oligodendrocyte glycoprotein antibody-positive disease (MOGAD). NMOSD and MOGAD are still quite new diagnostic entities. Without treatment, NMOSD has a high risk of relapse and the possibility of permanent disability, especially in young people and those of working age, which is multiplied by its comorbidities. Part of the diagnostic process involves ruling out other neurological causes of...