Neurology for Practice, 2013, issue 6

Editorial

Slovo úvodem

prof. MUDr. Ivan Rektor, CSc - předseda redakční rady

Neurol. praxi. 2013;14(6):275

Main topic

Metabolické ochorenia nervového systému

MUDr. František Cibulčík, PhD. - editor hlavnej témy

Neurol. praxi. 2013;14(6):281

Mitochondrial syndromes with nervous system damage

MUDr.František Cibulčík, PhD.

Neurol. praxi. 2013;14(6):282-286

Diseases with nervous system involvement caused by impaired mitochondrial function include a wide range of types of inheritance, damage to individual parts of the nervous system in combination with manifestations of dysfunction of other systems with high demands for energy supply. The approach to classifying mitochondrial disease can be primarily based on the clinical presentation, the type of biochemical damage, or the type of genetic damage. The paper describes mitochondrial disease syndromes, i.e. diseases whose phenotypic presentation forms a coherent syndrome. Diagnosing these diseases, in addition to taking into account the history and...

Neurological disorders in vitamin B12 deficiency

MUDr.Ivan Martinka

Neurol. praxi. 2013;14(6):287-291

Vitamin B12 plays an important role in organism as cofactor of important enzymes of intermediary metabolism. Lack of vitamin B12 is caused by malabsorption in the gastrointestinal tract, insufficient nourishment by food or genetic deficiency of methylmalonyl-CoA mutase enzyme. Vitamin B12 deficiency usually presents with various haematological, neurological and psychiatric manifestations. Neurological manifestations include myelopathy, neuropathy and, rarely, optic nerve atrophy. Myelopathy in vitamin B12 deficiency presents as subacute combined degeneration of spinal cord (funicular myelosis), characterised by degeneration of the lateral and...

Familial amyloid polyneuropathy

doc.MUDr.Peter Špalek, PhD.

Neurol. praxi. 2013;14(6):292-296

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a severe hereditary neuropathy due to deposition of mutant protein transtyretin (TTR) as amyloid. TTR-FAP is primarily characterized by sensory, motor and autonomic neuropathy and/or cardiomyopathy. As TTR-FAP is a progressive, disabling and life-threatening polyneuropathy, it is important to secure an accurate diagnosis as soon as possible. It is important to suspect de novo TTR-FAP among patients with idiopathic progressive peripheral neuropathies. Especially in elderly TTR-FAP should be considered as a chameleon-like-neuropathy mimicking a large spectrum of peripheral neuropathies....

Review articles

Assessment of cognitive function in early diagnosis of Alzheimer’s disease

Mgr.Tomáš Nikolai, MUDr.Martin Vyhnálek, Mgr.Eva Literáková, Hana Marková, doc.MUDr.Jakub Hort, Ph.D.

Neurol. praxi. 2013;14(6):297-301

Cognitive assessment in the diagnostics of Alzheimer’s disease (AD) comprises one of the key diagnostic procedures. Along with the change in diagnostic criteria for AD, the accent has been shifted into still earlier diagnostics of cognitive impairment with a central focus on the mild cognitive impairment due to AD. Cognitive screening tests represent a useful estimate of general cognitive function; however, neuropsychological assessment is necessary for a complex analysis. The objective of neuropsychological assessment is detecting clinically significant decrease of cognitive function, as well as profiling cognitive function for the purpose...

Statins and myopathy

prof.MUDr.Zdeněk Ambler, DrSc.&dagger,

Neurol. praxi. 2013;14(6):302-304

Statins are the most effective and widely used drugs to reduce low-density lipoprotein cholesterol and reduce cardiovascular events. Statin-related myopathy is a clinically important cause of statin intolerance and discontinuation. The spectrum of statin-related myopathy ranges from common but clinically benign myalgia, serum creatine kinase elevations, muscle weakness, necrotizing myopathy including recently discovered immune-mediated statin-associated necrotizing myopathy and at present very rare rhabdomyolysis. The risk of statin- associated myopathy can be minimized by identifying vulnerable risk patients and/or by eliminating statin interactions...

Sleep disturbances in Parkinson’s disease

MUDr.Petr Dušek, MUDr.Lenka Plchová

Neurol. praxi. 2013;14(6):305-308

Sleep-Wake disturbances belong to the most common and disabling nonmotor symptoms of Parkinson‘s disease (PD) as they affect 50–95% patients. Etiology of impaired sleep and wakefulness in PD is multifactorial. Its most important causes are co-existent primary sleep disorders, medication side effects, overnight re-emergence of motor symptoms, psychiatric comorbidities and primary neurodegeneration of sleep regulating brain areas itself. To date, very few controlled studies are available to make a recommendation for their management, thus treatment of sleep-wake disturbances in PD must be tailored individually with respect to presence...

Acute stroke and antihypertensive treatment

MUDr.Jan Fiksa, MUDr.Tomáš Janota, CSc.

Neurol. praxi. 2013;14(6):309-313

The acute hypertensive response occurs in more than 50% of all patients with acute stroke. However the treatment of hypertension in acute stroke is controversial, very high as well as low blood pressure have deleterious effect. In a consensus statement the American Heart Association and American Stroke Association has arbitrarily set for patients with hemorrhage stroke a systolic blood pressure of more than 200mmHg as target levels for aggressive management and more modest reduction when systolic blood pressure is more than 180mmHg. The blood pressure targets for patients with ischemic stroke eligible for thrombolytic therapy have been set...

From the boundary of neurology

Ethical aspects of help in families with spinal muscular atrophies

Mgr.Helena Kočová

Neurol. praxi. 2013;14(6):314-318

Progressive and incurable disease spinal muscular atrophy(SMA) belongs amongst so called low-curability diseases. In life, it brings about a lot of questions and painful situations. This illness mainly psychologically affects parents of the child; it has progressive process that often ends by the death of a child or an adolescent. From an ethical perspective, it is necessary to respect the right to life and support its fulfilment. care, quality of life.

New trends in physiotherapy of people with multiple sclerosis

PhDr.Kamila Řasová, Ph.D.

Neurol. praxi. 2013;14(6):319-320

In the synoptic article the authoress presents mechanisms of physiotherapeutic effect and principles of contemporary approach in physiotherapy (examination and therapy) in people with multiple sclerosis. plasticity and adaptability of the central nervous system, immunomodulation.

Case report

Cauda equina syndrome during pregnancy

MUDr.Petr Linzer, MUDr.Michal Filip, Ph.D.

Neurol. praxi. 2013;14(6):322-324

Cauda equina syndrome is relatively rare condition and may require urgent neurosurgical intervention. When fully developed, it‘s characterized by bilateral sciatica, saddle hypaesthesia, motor weakness of lower extremities and impairment of sphincters’ functions. The most frequent cause is compression of spinal nerve roots by large lumbar disc herniation below the level of conus medullaris. In common clinical practice a lumbar disc herniation in a pregnant woman is a sparse condition and cauda equina syndrome is then rarity. The case of surgically treated cauda equina syndrome due to large lumbar disc herniation L5/S1 in 35-year-old...