Genová léčba v neurologii

doc. MUDr. Hana Ošlejšková, Ph.D.

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

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

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...

Gene-based therapy for neuromuscular diseases

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...

Hope through gene therapy: a modern approach to treating AADC deficiency

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...

Metachromatic leukodystrophy diagnostic and therapeutic options

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...

From genetic diagnostics to gene therapy in epileptology

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...

Current genetic therapy options for transthyretin amyloidosis

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...

Targeted silencing: antisense oligonucleotides and genetic forms ALS

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...

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

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.

Novel therapeutic options in hereditary neurodegenerative cerebellar ataxias

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).

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

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...

From paresthesias to the diagnosis of spinal cord ischemia

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...

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

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...

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

MUDr. Olesja Parmová, Ph.D.

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