Slovo úvodem

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

Neurol. praxi. 2024;25(4):251  

Úvod k hlavnímu tématu Neuropatologie

prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(4):255  

Practical diagnosis of CNS tumors according to WHO CNS 2021 classification: General changes and diagnosis of diffuse gliomas

doc. MUDr. Marián Švajdler, Ph.D., MUDr. Peter Švajdler, MUDr. Richard Koleják, doc. MUDr. Vladimír Přibáň, Ph.D., doc. MUDr. Jan Mraček, Ph.D.

Neurol. praxi. 2024;25(4):256-262 | DOI: 10.36290/neu.2024.020  

WHO classification of tumors of the central nervous system published in 2021 (WHO CNS 2021) introduces major changes in classification of tumors of the brain and the spinal cord which reflect major advances in the molecular genetics. Histology and immunohistochemistry still represent the cornerstone of diagnostics, but in many tumor types advanced molecular techniques, including methylation profiling, are required to arrive at correct diagnosis. WHO CNS 2021 introduces many new tumor types, establishes different approach to grading, including molecular grading, and emphasizes the importance of integrated diagnosis. This review summarizes some general...

CNS tumours in children - a new perspective

MUDr. Miroslav Koblížek, prof. MUDr. Josef Zámečník, Ph.D.

Neurol. praxi. 2024;25(4):263-266 | DOI: 10.36290/neu.2024.053  

Neuropathological diagnostics of central nervous system tumours has advanced significantly in recent years thanks to molecular biological insights and new methods such as methylation profiling. In the current WHO classification, the general approach to grading and reporting of tumours has changed as a result. New tumour groups and new units have also been created, highlighting the differences between morphologically similar tumours with different molecular pathological backgrounds. This educative article gives actual view on groups of the most frequent pediatric CNS tumours and its impact on diagnostic approaches.

Update in diagnostic pathology of pituitary tumors - clinical and pathological perspective

MUDr. Jiří Soukup, Ph.D., MUDr. Mikuláš Kosák, prof. MUDr. David Netuka, Ph.D., doc. MUDr. Filip Gabalec, Ph.D.

Neurol. praxi. 2024;25(4):267-273 | DOI: 10.36290/neu.2024.027  

Pituitary tumors are common intracranial tumors in adults. Pituitary neuroendocrine tumors (PitNETs, formerly adenomas) represent a vast majority of pituitary lesions. These tumors can be classified according to the lineage of differentiation in tumor cells that corresponds to cellular subpopulations of normal pituitary. These cell lineages are determined by one or more transcription factors (Pit1, Tpit, SF1 and GATA3) that also regulate hormonal production in both normal pituitary cells and their neoplastic counterparts. This review article summarizes briefly current approach in histopathological diagnosis of PitNETs according to the latest WHO classification....

Extra-axial tumors of central nervous system - a pathologist's perspective

MUDr. Jiří Soukup, Ph.D., MUDr. Aleš Kohout, Ph.D., MUDr. Michaela May, Ph.D., prof. MUDr. David Netuka, Ph.D.

Neurol. praxi. 2024;25(4):274-281 | DOI: 10.36290/neu.2024.054  

Extra-axial tumors originate from tissues outside the pia mater (arachnoid, dura mater, bone), distinct anatomically from the central nervous system parenchyma. Pathologically, these tumors comprise a diverse range of lesions with varying morphological, biological, genetic, and clinical characteristics. They are classified into numerous histopathological subgroups in the latest 5th edition of the WHO classification of CNS tumors. This article offers a concise overview of these tumors, exploring their genetic aspects and addressing key considerations in differential diagnosis. Emphasis is placed on meningiomas, cranial and paraspinal nerve tumors, non-meningothelial...

Current standards for molecular pathological testing of central nervous system tumours

doc. RNDr. Markéta Kalinová, Ph.D., Mgr. Tereza Valterová, prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(4):282-286 | DOI: 10.36290/neu.2024.016  

The standards of molecular-pathological testing are transforming with the fifth edition of the WHO classification of central nervous system tumors. A significant change involves incorporating molecular genetic testing and adopting a comprehensive diagnostic approach. Certain tumors require examining the molecular profile for accurate classification, typically analyzing single nucleotide variants, deletions, codeletions, fusions, or methylation. Molecular methods extend the diagnostic spectrum beyond histopathological and immunohistochemical assessments, using techniques like PCR, Sanger sequencing, I-FISH, MLPA, and/or NGS. Collaboration among neuropathologists,...

Analysis of associated genes with neurodegenerative diseases: practical experience of neurodegenerative centers in FTN

RNDr. Eva Parobková, Ph.D., MUDr. Petr Šuhaj, Ing. Hana Šulcová, prof. MUDr. Radoslav Matěj, Ph.D.

Neurol. praxi. 2024;25(4):289-294 | DOI: 10.36290/neu.2024.044  

In 2009, next-generation sequencing (NGS) proved to be a very powerful tool in identifying variants associated with many neurodegenerative diseases. Whole-exome sequencing and whole-genome sequencing are effective for identifying variants in new or unexpected genes responsible for inherited diseases, while targeted sequen­cing is useful in detecting variants in previously known disease-associated genes. The wealth of genetic data provided by NGS has had a significant impact on clinical diagnoses while contributing to these discoveries of the molecular mechanisms underlying disease. However, eluciding the roles of the found variants identified by NGS,...

Friedreich ataxia - what we have learned in 160 years

prof. MUDr. Martin Vališ, Ph.D., FEAN, MUDr. Simona Halúsková, MUDr. David Matyáš, MUDr. Pavlína Hemerková

Neurol. praxi. 2024;25(4):296-302 | DOI: 10.36290/neu.2024.046  

Friedreich ataxia (FA) is the most common form of hereditary ataxia with an autosomal recessive inheritance pattern. Mitochondrial dysfunction is a central contributor to pathology in FA, resulting from decreased levels of functional frataxin protein, coded by the FXN gene. Initial symptoms of FA usually appear around the beginning of the second decade of life between 10 and 15 years. There is currently no cure for FA, despite ongoing intensive research efforts. Omaveloxolone belongs to a specific class of medications known as Nrf2 (nuclear factor erythroid 2-related factor 2) modulators and it is the first drug approved for FA, directly applicable...

Vestibular schwannoma

MUDr. Lenka Peterková, MUDr. Zdeněk Fîk, Ph.D., prof. MUDr. Eduard Zvěřina, DrSc., FCMA, MUDr. Aleš Vlasák, Ph.D., MUDr. Jan Lazák, MUDr. Vladimír Koucký, MUDr. Michaela Tesařová, MUDr. Rudolf Černý, CSc., MUDr. Zuzana Balatková, Ph.D., prof. MUDr. Jan Betka, DrSc., FCMA

Neurol. praxi. 2024;25(4):303-308 | DOI: 10.36290/neu.2024.055  

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...

Current practice and future use of virtual reality in neuroscience and neurology

Petr Roudenský, Msc., Bc. Jan Horský

Neurol. praxi. 2024;25(4):310-314 | DOI: 10.36290/neu.2024.036  

Virtual reality and its applications for medical purposes have been studied since the 1990s, especially in the field of neuroscience and neurosurgery. However, significant technological advances in recent years have made this technology more powerful and, most importantly, more accessible, and its use in medical research and practice is growing rapidly as awareness of its potential increases. In addition to pre-operative use, simulation, training and tele-proctoring in neurosurgery, virtual reality is increasingly being applied in neurorehabilitation and neuropsychiatry, particularly in the context of innovative therapeutic approaches. Although the...

Acute disseminated encephalomyelitis or multiple sclerosis?

MUDr. Pavel Potužník, Ph.D., MUDr. Ing. Radek Tupý, Ph.D., MUDr. Eliška Kopáčová, MUDr. Marek Peterka

Neurol. praxi. 2024;25(4):322-326 | DOI: 10.36290/neu.2024.035  

Multiple sclerosis is the most common acquired chronic inflammatory demyelinating disease of the central nervous system. The diffferential diagnosis of multiple sclerosis includes acute disseminated encephalomyelitis, which is a monophasic autoimmune demyelinating disease. Clinically, acute disseminated encephalomyelitis is manifested by encephalopathy and multifocal involvement. In addition to clinical findings, magnetic resonance imaging and cerebrospinal fluid examination can hepl us to differentiate these two entities. This case report describes a rare variant of tumefactive multiple sclerosis, which was initially presented with epileptic seizure...

Fenfluramine

MUDr. Ondřej Horák

Neurol. praxi. 2024;25(4):315-320 | DOI: 10.36290/neu.2024.049  

In the following review article, we introduce fenfluramine - an "old-new" drug, used in the past for the treatment of obesity and now relatively newly registered in the European Union, the USA and the UK as an orphan drug for the therapy of epileptic seizures associated with Dravet and Lennox-Gastaut syndrome, i.e. with severe and generally ultrarefractory epileptic encephalopathies. The mechanism of action of fenfluramine is based on interaction with serotoninergic and sigma-1 receptors, which, in addition to reducing seizure activity, promises to patients cognitive, emotional, and behavioral benefits. Efficacy and a safety profile have been proved...

Uniká až drtivá většina pacientů. Včasný záchyt Scheuermannovy choroby a skoliózy podpoří kampaň

Bc. Tadeáš Řáha

Neurol. praxi. 2024;25(4):328-329