Slovo úvodem

prof. MUDr. Ivan Rektor, CSc.

Neurol. praxi. 2019;20(5):327  

Neurogenetika

prof. MUDr. Pavel Seeman, Ph.D.

Neurol. praxi. 2019;20(5):331  

Genetics of hereditary spastic paraplegias

RNDr. Anna Uhrová Mészárosová, Ph.D., prof. MUDr. Pavel Seeman, Ph.D.

Neurol. praxi. 2019;20(5):332-336 | DOI: 10.36290/neu.2019.047  

Hereditary spastic parapalegia (HSP or SPG) is clinically and genetically heterogenous serious disease of the central motoneuron. It is characterised by progressive spasticity and weakness of lower libms leading to progressive gait impairement. Pathogenic variants causing HSP in more than 90 genes or gene loci where described to date. Methods of new generation sequencing allow us to map the genetic background of HSP and to bring new knowledges about clinical spectrum of particular types of HSP. There exist at least 12 types of HSP among Czech HSP patients, the most frequent types are SPG4, SPG31 with autosomal dominant and SPG7 and SPG11 with autosomal...

Genetics of neuromuscular diseases

Mgr. Jana Zídková, Ph.D., doc. RNDr. Lenka Fajkusová, CSc.

Neurol. praxi. 2019;20(5):339-343 | DOI: 10.36290/neu.2019.138  

Hereditary neuromuscular diseases are rare diseases characterised by large clinical and genetic heterogeneity. The progressin molecular genetic methods especially massive parallel sequencing leads to increase knowledge of their genetic causes andetiopathogenesis that enables the prediction of clinical course or the using of targeted therapy.

Hereditary cerebellar ataxias in adults

MUDr. Emílie Vyhnálková, Ph.D., Mgr. Zuzana Mušová, Ph.D., MUDr. Alena Zumrová, Ph.D., MUDr. Eva Košťálová, MUDr. Martin Vyhnálek, Ph.D.

Neurol. praxi. 2019;20(5):344-350 | DOI: 10.36290/neu.2019.139  

Hereditary cerebellar ataxias are rare causes of adult balance disorders. In this paper, we summarize basic information about thisheterogeneous group of diseases, with an emphasis on clinical diagnosis and with a particular focus on identifying treatable causes.

Genetics of Alzheimer's Disease in Clinical Practice

MUDr. Martin Vyhnálek, Ph.D., MUDr. Emílie Vyhnálková, Ph.D., doc. MUDr. Jan Laczó, Ph.D.

Neurol. praxi. 2019;20(5):352-355 | DOI: 10.36290/neu.2019.140  

Alzheimer's disease (AD) is the most common cause of dementia in elderly. Only a small proportion of cases is caused by pathogenicvariants in one of the AD associated genes – monogenic forms (autosomal dominant forms of AD). Most cases of late-onsetAD are considered to have multifactorial ethiology with a high contribution of hereditary component (up to 74 %). The papersummarizes current knowledge about the genetic basis of AD, including recommendations for clinical practice.

CGRP monoclonal antibodies for migraine prophylaxis

MUDr. Tomáš Nežádal, Ph.D.

Neurol. praxi. 2019;20(5):356-360 | DOI: 10.36290/neu.2019.141  

Prophylactic treatment of frequent episodic and chronic migraine is often unsuccessful. In recent years, the therapeutic procedureshave focused on the particular segments of the pathophysiological chain of migraine. Calcitonin Gene-Related Peptide (CGRP) isa key peripheral and central agent. Data emerging from trials with monoclonal antibodies (mAb) suggest that this specific blockadeof the CGRP pathway may provide an effective and safe novel preventive therapeutical approach in migraine.

Safety monitoring of escalation treatment of multiple sclerosis

MUDr. Jiří Piťha

Neurol. praxi. 2019;20(5):362-367 | DOI: 10.36290/neu.2019.142  

Currently, ten drugs with a different mechanism of action are approved for the treatment of relapsing multiple sclerosis. Fingolimod, cladribine, natalizumab, alemtuzumab and ocrelizumab are very effective but are associated with some more serious side effects, some of which may be life-threatening. These drugs are second choice drugs and are usually chosen as escalation. For highly active forms of the disease, their potential can be exploited as induction therapy. The choice of optimal treatment is based on the knowledge of the mechanism of action, the benefit-risk balance and must be tailored to the individual patient. Patient preference, lifestyle,...

The neuromyelitis optica spectrum disorders

doc. MUDr. Jarmila Szilasiová, PhD.

Neurol. praxi. 2019;20(5):368-372 | DOI: 10.36290/neu.2019.059  

The neuromyelitis optica spectrum disorders (NMOSD) includes neuromyelitis optica – NMO (characterized typically by optical neuritis and myelitis) and other particularly limited forms that include involvement of other parts of the CNS (brainstem, diencephalon, hypothalamus). NMOSD prevalence is low, but severe and rapid progressive disability in patients has led to extensive research in the field of diagnostics as well as therapeutic approaches in recent years. The discovery of specific serum immunoglobulin G antibodies selectively targeted to aquaporin 4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) have led to an understanding of different...

Obstructive sleep apnoea with excessive daytime sleepiness as a risk factor for falling asleep while driving with respect to medical fitness to drive motor vehicles

MUDr. Martin Pretl, CSc.

Neurol. praxi. 2019;20(5):373-376 | DOI: 10.36290/neu.2019.143  

Drivers with untreated obstructive sleep apnoea (OSA) report more frequent excessive daytime sleepiness (EDS) while driving. They have a two- to five-fold higher risk of traffic accidents, with one in six accidents having serious consequences, including fatal ones. Treatment with positive airway pressure (PAP) reduces the risk of traffic accidents while improving EDS. OSA and EDS are important determining factors in road accidents associated with sleep. OSA with EDS is thus among diseases which, unless properly controlled, compromise road safety. A major challenge in the decision-making process is the estimation of EDS severity which has not been defined...

Poststroke depression

MUDr. Tomáš Novák, Ph.D.

Neurol. praxi. 2019;20(5):377-382  

One third of stroke survivors develop a clinically significant depression (poststroke depression, PSD). A higher risk is in patients with a history of depressive disorder, a more severe stroke and a more pronounced impairment of motor or cognitive functions. Given the link between PSD and higher mortality, worse outcomes, and a more pronounced motor and cognitive impairment, early recognition of PSD and its treatment is a crucial step in a care after stroke. Previous studies suggest the efficacy of antidepressants (ADs) in both the treatment of PSD and the effect on daily functioning including alleviation of motor impairment, and a possible usefulness...

Acute onset urinary incontinence – manifestation of cauda equina syndrome or clinically isolated syndrome?

MUDr. Vojtěch Mrňka

Neurol. praxi. 2019;20(5):388-391 | DOI: 10.36290/neu.2019.145  

Cauda equina syndrome is complex neurological syndrome most often caused by extradural compresssion of the lumbar and sacral spinal roots due to acute medial disc herniation. Typical clinical symptoms are radicular pain, saddle hypoesthesia, anesthesia or paraesthesia, sphincter dysfunction, weakness of the lower extremities and impaired low reflexes. Cauda equina syndrome could manifest incompletely and asymmetric disability is frequent. Multiple sclerosis (MS) is progressive autoimmune chronic inflammatory disease of the central nervous system triggered by environmental factors in a genetically predisposed individual. MS attack can affect all parts...

Non malignant breakthrough pain treatment

MUDr. Marek Hakl, Ph.D.

Neurol. praxi. 2019;20(5):392-394 | DOI: 10.36290/neu.2019.146  

The non-oncology pain is often accompanied by acute pain worsening, whether the result of increased endeavor, stress or even weather changes. The optimal medicaments for treatment of these episodes are pharmaceuticals with fast release effect and relatively short effect. We could use drugs from non steroidal anti-inflammatory group, drug combination tramadol/paracetamol or on the Czech market new IR oxycodone. It exceed in fast effect, fierce effect and relatively few adverse effects. Case study describes woman of 58 years old with pain after two spine operations. Combined treatment of acute worsening of pain with tramadol/paracetamol was ineffective,on...

Alemtuzumab treatment in multiple sclerosis: real clinical experience

MUDr. Simona Halusková, MUDr. Zbyšek Pavelek, Ph.D., doc. MUDr. Martin Vališ, Ph.D.

Neurol. praxi. 2019;20(5):395-398 | DOI: 10.36290/neu.2019.147  

Alemtuzumab (Lemtrada®) is a humanized monoclonal antibody indicated for the treatment of highly active relapsing-remitting multiple sclerosis (RRMS), targeting the CD52 glycoprotein expressed on the surface of immune cells, mainly T and B lymphocytes. The precise action of alemtuzumab is unknown, but it is thought to involve binding with CD52 antigen that leads to depletion of circulating T and B cells resulting in development of new lymphocyte generation potentially without autoaggressive signs of the original population. Although the efficacy of alemtuzumab has been widely proven, several severe adverse effects have been reported with its use....

Fremanezumab prokázal účinnost a dobrou snášenlivost u pacientů s obtížně léčitelnou migrénou, u nichž selhala předchozí léčba 2–4 třídami antimigrenik

MUDr. Zuzana Zafarová

Neurol. praxi. 2019;20(5):401-405  

Perampanel – what to do with it II?

MUDr. Ondřej Strýček, prof. MUDr. Ivan Rektor CSc.

Neurol. praxi. 2019;20(5):383-387 | DOI: 10.36290/neu.2019.144  

Fycompa® (perampanel – PER) is an antiepileptic drug for add-on therapy of focal and generalised epilepsy in patient older than 12 years. It has an unique mechanism of action based on decreasing neuronal hyperexcitability by suppressing glutamatergic transmission. Its interactive potential is low allowing combined therapy with other antiepileptic drugs. It is save and its good tolerability is supported by once-daily dosing. It is effective for treatment focal and tonic-clonic seizures (generalized and focal to bilateral tonic-clonic seizures). It is well-tolerated even in long-term treatment. When rightly use (especially slowly titrated),...

Právní poradna

Neurol. praxi. 2019;20(5):406