Neurology for Practice, 2016, issue 6

Editorial

Slovo úvodem

prof. MUDr. Ivan Rektor, CSc.

Neurol. praxi. 2016;17(6):343

Main topic

Nemoci motorických neuronů

MUDr. Radim Mazanec, Ph.D. – editor hlavního tématu

Neurol. praxi. 2016;17(6):348 | DOI: 10.36290/neu.2016.072

Spinal muscular atrophy - diagnostics, therapy, research

MUDr. Jana Haberlová, Ph.D., MUDr. Alžběta Slabá, RNDr. Petra Hedvičáková, MUDr. Tereza Doušová

Neurol. praxi. 2016;17(6):349-353 | DOI: 10.36290/neu.2016.073

Spinal muscular atrophy is a group of hereditary disorders caused by degeneration of alpha motor neurons in anterior horn cells. Clinically, they show as progressive, mostly as proximal muscle weakness. Although 95 % of cases are autosomal recessive forms caused by mutations in SMN1 gene, it is a heterogeneous group of disorders. Due to incidence 1: 6 000–10 000, they are rare diseases. As for prevalence, the number of SMA patients in the Czech Republic ranges in hundreds. At present, the care for SMA patients is predominantly covered by paediatric neurologists. Thanks to better symptomatic care, the survival of most SMA patients prolongs to...

Hereditary motor neuropathies

MUDr. Radim Mazanec, Ph.D., RNDr. Jana Neupauerová, MUDr. Daniel Baumgartner, MUDr. Veronika Potočková, MUDr. Petra Laššuthová, Ph.D., MUDr. Dana Šafka-Brožková, Ph.D., prof. MUDr. Pavel Seeman, Ph.D.

Neurol. praxi. 2016;17(6):354-358 | DOI: 10.36290/neu.2016.074

The hereditary motor neuropathies (HMN), sometimes called distal spinal muscular atrophies (dSMA), are characterized by selective involvement of peripheral motor nervous system. They affect about 10% of all patients suffering from hereditary neuropathies. The typical clinical features are symmetric atrophies and weakness of distal muscles of all extremities in lenght dependent pattern. They are clinically and genetically heterogeneous group of motor neuropathies with great diversity of phenotype and genotype. This group was subdivided into different types according to age of onset, muscle weakness distribution at upper or lower limbs, minor sensory...

Kennedy's disease (bulbar and spinal muscular atrophy)

MUDr. Petr Ridzoň

Neurol. praxi. 2016;17(6):359-361 | DOI: 10.36290/neu.2016.075

Bulbar and Spinal Muscular Atrophy (BSMA) is a rare degenerative disease with a slow progression and adult-onset and caused by the expansion of CAG triplets repeat on first exon of the androgen receptor gene of chromosome Xq11–12. Heredity is X-linked recessive and disease developed by male patients. Female are the carriers. The main neurological manifestations is a weakness and atrophy, fasciculation’s of muscles of bulbar (tongue, facial muscles) and limb muscles (more prominent proximally). Other disturbances: gynecomastia, tremor, cramps, slight sensory deficit. The diagnosis is usually established between 40 and 50 years, but the first...

Amyotrophic lateral sclerosis

MUDr. Eva Vlčková, Ph.D.

Neurol. praxi. 2016;17(6):362-365 | DOI: 10.36290/neu.2016.076

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of motor neurons in the primary motor cortex, corticospinal trats, brainstem and spinal cord. Progressive muscular paralysis with fasciculations represent a typical clinical presentation. Initially, only one extremity is usually affected with further progression and generalisation. Is some patients (approximately 25 %), bulbar syndrome with dysartria and dysfagia is a dominant feature at the beginning of the disease course with later generalisation of the process. The diagnosis is clinically based and is performed according so-called revised...

TDP43-proteinopathy in ALS: cognitive deficits in ALS, ALS Plus syndromes

MUDr. Daniel Baumgartner

Neurol. praxi. 2016;17(6):366-369 | DOI: 10.36290/neu.2016.077

New insights into the molecular genetics and cellular pathophysiology of the amyotrophic lateral sclerosis changed the landscape of neurodegenerative diseases during the last two decades. The model of TDP-43 proteinopathy disseminating through the CNS along predetermined pathways brought an plausible explanation for seemingly unrelated symptoms. Hexanucleotid expansion of the gene C9ORF72, among other mutations, is an outstanding example of various manifestations of one genotype into different phenotypes, namingly FTD, ALS or combination of both disorders in one patient. Both former entities are now considered a part of a clinico-pathological spectrum...

Primary lateral sclerosis

doc MUDr. Edvard Ehler, CSc.

Neurol. praxi. 2016;17(6):370-372 | DOI: 10.36290/neu.2016.078

Primary lateral sclerosis is a degenerative disease characterized by loss of motoneurons in precentral cortical region. Progressive spastic paresis with maximum of lower extremities, then of bulbar region, trunk and lesser of upper extremities is the most common clinical sydrome. A difficult spastic gait, dysarthria and dysphagia are characteristic symptoms. Differential diagnosis is very important, especially against amyotrophic lateral sclerosis, which has substantially worse prognosis. Decrease of spasticity, influence of dysphagia, dysarthria, and rehabilitation are the most important therapeutic measures of these severly affected patients.

Hereditary spastic paraplegias: clinical and genetic aspects

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

Neurol. praxi. 2016;17(6):373-376 | DOI: 10.36290/neu.2016.079

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of central motor neuron disorders characterized by bilateral progressive spasticity and weakness of the lower limbs. The clinical features are caused by progressive axonal degeneration of the corticospinal tract and dorsal columns. Typical clinical symptoms are progressive gait impairment and spasticity of the lower limbs. Clinical symptoms can manifest at any age (from preschool to the elderly), symptoms onset can be very slow. HSP is caused by a pathogenic genetic variant/ mutation in one of more than 50 genes described with HSP. For the majority of patients, the causal mutation is localised...

Review articles

Magnetic resonance imaging for detection of opportunistic infection of patients with multiple sclerosis

prof. MUDr. Manuela Vaněčková, Ph.D., doc. MUDr. Dana Horáková, Ph.D.

Neurol. praxi. 2016;17(6):377-383 | DOI: 10.36290/neu.2016.080

Magnetic resonance imaging has a very important role in the diagnosis of opportunistic infections of multiple sclerosis patients. Most often it is possible occurrence of progressive multifocal leukoencephalopathy in connection with the treatment of the monoclonal antibody natalizumab. There is currently no causal treatment, the only thing that positively affects the prognosis of the patient is the earliest possible diagnosis of the disease, followed by a rapid change in clinical management of the patient. That can be achieved only by regular, frequent MRI monitory. This article summarizes the typical early symptoms of the disease, highlights the differences...

Toxic myopathies

doc. MUDr. Edvard Ehler, CSc., prof. MUDr. Josef Zámečník, Ph.D.

Neurol. praxi. 2016;17(6):386-390 | DOI: 10.36290/neu.2016.081

Damage of skeletal muscle by a toxic substance can lead to toxic myopathy. In most cases there is a toxic effect of medicaments, in a lesser extent effects of abuse substances, biological or chemical toxins. A toxic substance can damage contractile elements (actin, myosin) or some other muscle proteins, individual organells (e.g. microtubulls), can disturb muscle cell metabolism (e.g. mitochondrias), muscle membrane with ionic channels. Individual patophysiological mechanisms lead to various pathological or clinical pictures of toxic myopathies. There is an increasing number of medicaments with myotoxic effects and there are more patients with variably...

From the boundary of neurology

Alemtuzumab in the treatment of multiple sclerosis: a haematologist perspective

prof. MUDr. Tomáš Kozák, Ph.D.

Neurol. praxi. 2016;17(6):391-396 | DOI: 10.36290/neu.2016.082

Alemtuzumab is one of the first monoclonal antibodies used in cancer therapy. From the beginning of this millenium alemtuzumab was studied in the therapy of multiple sclerosis (MS), it became also part of the conditioning regimen in a study with autologous haematopoietic cell transplantation for MS. In the same time the positive effect of alemtuzumab monotherapy has been shown in both first line therapy of RRMS and MS resistant to previous therapy in well designed clinical studies. Adverse events analysis revealed the alemtuzumab therapy in MS could be associated with development of a secondary autoimmune disease. Except of relatively frequent autoimmune...

Case report

Pitfalls of prodromal phase of herpes zoster and experience with pregabalin

MUDr. Irena Bednářová

Neurol. praxi. 2016;17(6):402-407 | DOI: 10.36290/neu.2016.084

Pain as the most significant clinical symptom of herpes zoster (HZ, shingles) is classified as neuropathic pain. In the acute phase of skin eruption, it is referred to as herpetic neuralgia (HN). Pain, however, can occur as early as the pre-eruptive phase wherein various painful symptoms may be misdiagnosed, depending on the location, as a number of other conditions (e.g., ulcerous disease, renal colic, lumbar ischialgia, myocardial infarction, and others). If acute pain progresses to a chronic stage, it is referred to as post-herpetic neuralgia (PHN) the treatment of which is often very difficult. The case report presents a female patient with an...

Escalation therapy in multiple sclerosis

MUDr. Zbyšek Pavelek, MUDr. Pavel Ryška, Ph.D., doc. MUDr. Martin Vališ, Ph.D.

Neurol. praxi. 2016;17(6):407-411 | DOI: 10.36290/neu.2016.085

Multiple sclerosis is a chronic inflammatory demyelinating disease which affect central nervous system with neurodegenerative changes of brain. This autoimmune disease manifests itself with various symptoms. Treatment options in multiple sclerosis have expanded considerably in the recent years. This review explore current treatment options for multiple sclerosis. We report one casee from our own patients base through we demonstrate possible use of fingolimod for treatment escalation.