Slovo úvodem

prof. MUDr. Ivan Rektor, CSc.

Neurol. praxi. 2012;13(3):123  

Parkinsonské syndromy - úvodní slovo

MUDr. Pavel Ressner, Ph.D. - editor hlavního tématu

Neurol. praxi. 2012;13(3):126  

Parkinsonian syndromes: MSA and PSP as characteristic examples

MUDr.Pavel Ressner, Ph.D., MUDr.Petra Bártová, Ph.D.

Neurol. praxi. 2012;13(3):127-130  

Parkinsonian syndromes are a large and heterogeneous group of diseases. The classification of these diseases has been making a rapid progress and, due to advances in the field of molecular genetics in particular, it may be possible to distinguish new nosological entities in the future. Atypical parkinsonian syndromes can be divided into synucleinopathies and tauopathies, and other heredodegenerative diseases. Parkinsonian syndromes are most characteristically represented by multiple system atrophy (MSA) and progressive supranuclear palsy (PSP), with PSP being a type of tauopathy and MSA that of synucleinopathy. The present article provides...

Juvenile form of Huntington's disease

doc.MUDr.Jan Roth, CSc.

Neurol. praxi. 2012;13(3):131-134  

Huntington's disease (HD) is an autosomal dominant hereditary neurodegenerative disease with an incidence of approximately 1:10-15000. The mutation involves an expansion of CAG triplets in the first exon. An individual develops HD when the number of triplets is 40 or more. A typical age of onset of initial symptoms in classic, adult-onset HD is between 35 and 50 years of age. Much more rarely (approximately 5% of all cases), HD develops in child or adolescent age (juvenile form of HD /JHD/, arbitrarily defined as a disease with the onset of clinical manifestations by 20 years of age). This form of disease usually occurs when the number of CAG...

Acute neuropsychiatric symptoms of Wilson´s disease, treatment and the issue

Olesja Drohobecká, MUDr.Marek Baláž, Ph.D., doc.MUDr.Irena Rektorová, Ph.D.

Neurol. praxi. 2012;13(3):135-139  

of non-compliance a case report of a young patient Wilson’s disease (WD) has to be diagnosed early and the treatment regimen must be followed very carefully. Non-compliance may have fatal consequences. We report a case of a young man with neuropsychiatric symptoms of WD that developed in association with drug abuse. The dominating neurological symptoms included dystonia and even status dystonicus, dysmetria, rigidity, akinesia, motor and vocal tics, impairment of speech and gait. A gradual increase of the penicilamine daily dose led to overall clinical improvement which was reflected by the fact that the patient got married and had...

Parkinsonian syndrome and extrapyramidal symptoms in neurodegenerative

MUDr.Petra Bártová, Ph.D.

Neurol. praxi. 2012;13(3):140-145  

diseases associated with disorders of iron metabolism Iron plays a significant role in the human body. Neurodegeneration with brain iron accumulation (NBIA) characterizes a heterogeneous group of neurodegenerative diseases associated with iron accumulation in the central areas of the brain. The most common disease of this group is pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disease characterized by a mutation in the PANK2 gene and impaired metabolism of coenzyme A. Also included here are phospholipase A2-associated neurodegeneration caused by a mutation in the PLA2G6 gene and conditions, such as neuroferritinopathy,...

Genetic causes of parkinsonism with focus on spinocerebellar ataxias

MUDr.Matej Škorvánek, doc.MUDr.Peter Valkovič, PhD.

Neurol. praxi. 2012;13(3):146-150  

Multiple monogenetic forms of parkinsonism were identified during recent years. Monogenic disorders with clinical picture of classical parkinsonism or atypical parkinsonism can be categorized into 3 main groups. 1) monogenic disorders from the group with „PARK“ gene mutations; 2) mutations in „non-PARK“ genes, where classical parkinsonism can be a common finding, or where it can be even an isolated feature – such as genetic causes of dystonia – „DYT“ genes and spinocerebellar ataxias – „SCA“; 3) other „non-PARK“ genetic disorders that may present some parkinsonian...

Options of vagus nerve stimulation other than epileptic surgery

MUDr.Jan Chrastina, Ph.D., prof.MUDr.Zdeněk Novák, CSc., prof.MUDr.Milan Brázdil, Ph.D., doc.MUDr.Robert Kuba, Ph.D., Ing.Ivo Říha, prof.MUDr.Ivan Rektor, CSc.

Neurol. praxi. 2012;13(3):151-154  

Clinical results of vagus nerve stimulation in pharmacoresistant epilepsy patients and the data showing the widespread effect of vagus nerve stimulation on central nervous system structures elicits the consideration of vagus nerve implantation in another functional disorders. The most extensive data are available for the treatment of treatment resistant depression, data about other functional disorders are limited to case reports or small group of patients from single departments. Exact definition of indication criteria with respect to deep brain stimulation and definition of clinically usable predictors of clinical response are the prospectives...

Adherence to treatment in multiple sclerosis

MUDr.Pavel Hradílek, Ph.D.

Neurol. praxi. 2012;13(3):155-158  

According to Health Organization (WHO) adherence is defined as the extent to which the patients behaviour – taking medication, following a diet, and/or executing lifestyle changes – corresponds with agreed recommendations from a healthcare provider. High level of adherence is necessary in the treatment of chronic diseases. Following article deals with adherence in the treatment of multiple sclerosis, especially focusing on the disease modifying drugs of first choice, that are all injections, and need to be taken long term and regularly. Some methods, how to measure adherence are discussed, as well as factors leading to non-adherence...

Autoimmune limbic encephalitis

MUDr. David Krýsl, doc. MUDr. Petr Marusič, Ph.D.

Neurol. praxi. 2012;13(3):160-164  

The term autoimmune limbic encephalitis (LE) denotes a heterogeneous group of immune-mediated CNS disorders with characteristic clinical symptoms including subacute memory dysfunction, psychiatric problems and epileptic seizures. LE can be divided into 1) syndromes with antibodies against intracellular antigens and 2) syndromes with antibodies against membrane and synaptic antigens. The first group includes LE with well characterized paraneoplastic antibodies (anti-Hu, anti-Ma2, anti-CV2/CRMP5, anti-amphiphysin) and LE with anti-GAD antibodies. The latter group comprises LE with antibodies against LGI1, caspr-2, AMPA receptors and GABAB receptors,...

Clinical experience with the use of drawings in diagnosing headache in children

Mgr.Jana Pejčochová

Neurol. praxi. 2012;13(3):166-169  

In this article, we will focus on our own experience with children headache drawing, which is based on Staftrom et al.´s (2002) low structured administration and analysis of headache symptoms and behavioral changes. Apart from the presentation of this method, we will briefly mention the broader context of the topic (the developement of drawing and the ability to perceive pain depending on cognitive maturity in childhood) and the real pictures we have obtained. It can be seen as an instruction and an ecouragement to distribute this inexpensive method, whith is popular wiht children.

Lambert-Eaton myasthenic syndrome in a child

MUDr.Jan Staněk, MUDr.František Vlček

Neurol. praxi. 2012;13(3):171-173  

Lambert-Eaton myasthenic syndrome is a rare autoimunne presynaptic disorder of neuromuscular transmission. It is characterised by muscle weakness, hyporeflexia and autonomic dysfunction. The syndrome is often associated with small cell lung carcinomas. It is a disease of middle and older age. Rare cases have been reported in children. We present a 12-year boy with abnormal gait, slight bilateral ptosis, hyporeflexia, xerostomia and vitiligo without evidence of neoplasms. High- frequency repetitive nerve stimulation with a large increment and a P/Q- type calcium- channel antibodies level confirmed the diagnosis of the syndrome. Corticosteroids,...

MUDr. Olga Zapletalová - životní jubileum

MUDr. Jan Hromada

Neurol. praxi. 2012;13(3):174