2017, Vol 17, No 2
Visual control improves the accuracy of hand positioning in Huntington’s disease
Aktualn Neurol 2017, 17 (2), p. 69–75
DOI: 10.15557/AN.2017.0007

Background: The study aimed at demonstrating dependence of visual feedback during hand and finger positioning task performance among Huntington’s disease patients in comparison to patients with Parkinson’s disease and cervical dystonia. Material and methods: Eighty-nine patients participated in the study (23 with Huntington’s disease, 25 with Parkinson’s disease with dyskinesias, 21 with Parkinson’s disease without dyskinesias, and 20 with cervical dystonia), scoring ≥20 points on Mini-Mental State Examination in order to assure comprehension of task instructions. Neurological examination comprised of the motor section from the Unified Huntington’s Disease Rating Scale for Huntington’s disease, the Unified Parkinson’s Disease Rating Scale Part II–IV for Parkinson’s disease and the Toronto Western Spasmodic Torticollis Rating Scale for cervical dystonia. In order to compare hand position accuracy under visually controlled and blindfolded conditions, the patient imitated each of the 10 examiner’s hand postures twice, once under the visual control condition and once with no visual feedback provided. Results: Huntington’s disease patients imitated examiner’s hand positions less accurately under blindfolded condition in comparison to Parkinson’s disease without dyskinesias and cervical dystonia participants. Under visually controlled condition there were no significant inter-group differences. Conclusions: Huntington’s disease patients exhibit higher dependence on visual feedback while performing motor tasks than Parkinson’s disease and cervical dystonia patients. Possible improvement of movement precision in Huntington’s disease with the use of visual cues could be potentially useful in the patients’ rehabilitation.

Keywords: movement disorders, Huntington’s disease, Parkinson’s disease, cervical dystonia, visual feedback
Rare genetically determined microangiopathies in the neurologist practice
Aktualn Neurol 2017, 17 (2), p. 76–86
DOI: 10.15557/AN.2017.0008

Microangiopathies are progressive genetically determined diseases of the cerebral small blood vessels. Usually, they are generalised vascular diseases, only with the dominance of symptoms of the central nervous system damage. Characteristic symptoms are recurrent ischaemic or haemorrhagic strokes and a variety of neurological symptoms such as migraines, epilepsy, early cognitive disorders, mental disorders as well as specific changes in neuroimaging and neuropathological findings in young patients. In magnetic resonance imaging of the brain, diffused or focal hyperintensities in the cerebral white matter are visible, and in biopsy specimens characteristic histopathological changes in vessels are observed. The most well-known and common microangiopathy is CADASIL, but the literature devoted to cerebrovascular disorders is rapidly updated with new diseases and syndromes. Thanks to the better accessibility of neuroimaging methods and histopathological assessment of biopsy materials, microangiopathies are increasingly recognised. Early diagnosis of microangiopathies is of great practical importance, as not only does it prevent unnecessary additional tests, but also requires modification of routine treatment.

Keywords: angiopathy, small vessel disease of the brain, CADASIL
The cognitive and emotional effects of deep brain stimulation in patients with epilepsy – literature review
Aktualn Neurol 2017, 17 (2), p. 87–95
DOI: 10.15557/AN.2017.0009

Epilepsy is a quite common neurological disorders syndrome. According to the World Health Organization, epilepsy affects approximately 50 million people worldwide. Apart from seizures, epileptic patients often develop cognitive and emotional impairments, which might be accompanied by suicidal thoughts. The disease greatly decreases the quality of life of patients and also impairs their activities of daily living. Approximately 40% of epileptic patients develop a drug-resistant form of the disease and a considerable number of patients cannot undergo resective surgery or in some cases surgery fails to reduce seizures. Stimulation of the anterior nucleus of thalamus was accepted in Europe in 2010 as an adjunctive treatment method for partial-onset seizures in adults with medically refractory epilepsy. However, its safety and efficacy is still under investigation. It uses electrodes to stimulate structures located deeply in the brain and is less invasive than surgery. A number of research studies have shown the efficacy of deep brain stimulation in reducing the frequency of epileptic seizures by stimulating selected areas of the brain. However, due to the fact that many of these structures are part of the limbic system, in many studies attention is increasingly paid to the effect of stimulation on the cognitive and emotional functions of patients. The main purpose of this review is to provide an overview of research studies on the effect of deep brain stimulation on neuropsychiatric functions of patients with epilepsy, to emphasize both therapeutic and side effects of stimulation and also to highlight the importance of neuropsychological examination in the evaluation and monitoring of patients with epilepsy receiving this treatment.

Keywords: deep brain stimulation, epilepsy, cognitive functions, emotional functions, depression
The mechanism of action of fingolimod in multiple sclerosis therapy
Aktualn Neurol 2017, 17 (2), p. 96–103
DOI: 10.15557/AN.2017.0010

Fingolimod is the first registered oral drug effective in the treatment of multiple sclerosis. Its active metabolite, fingolimod phosphate, affects S1PR receptors, and regulates the release of lymphocytes from the lymphoid tissues, showing an immunosuppressive effect. However, recent studies have also shown fingolimod to have neuroprotective properties. Fingolimod is able to cross the brain–blood barrier, and thus affect the central nervous system cells expresing S1PR receptors, such as astrocytes, oligodendrocyte progenitor cells, microglia and neurons. It stimulates the production of neurotrophic factors, and decreases the production of nitric oxide in astrocytes, thus relieving the severity of the neurodegenerative process. Furthermore, it limits the expression of pro-inflammatory TNF-induced cytokines in astrocytes, reducing their pro-inflammatory potential. It stimulates the migration and proliferation of oligodendrocyte progenitor cells, which are the source of oligodendrocytes – the only cells in central nervous system capable of synthesizing myelin. Fingolimod treatment significantly enhances the regenerative mechanisms in experimental autoimmune encephalomyelitis. It reduces microglial reactivity, and slows down the nuerodegenerative process caused by inflammatory response. Long-term application of fingolimod reduces the sensitivity of nerve cells to neurotoxic agents, suggesting a direct neuroprotective effect. Currently, clinical trials of several selective S1PR inhibitors are in progress, such as siponimod, ponesimod and ozanimod. They seem to show an improved safety profile and pharmacokinetic properties compared to fingolimod.

Keywords: multiple sclerosis, fingolimod, mechanism of action, selective S1PR modulators, S1P
Triptans in migraine headaches – the balance of benefits and risk
Aktualn Neurol 2017, 17 (2), p. 104–114
DOI: 10.15557/AN.2017.0011

Migraine is a very common problem affecting ca. 15–18% of women and 6% of men. Chronic migraine occurs in ca. 2% of the general population and is associated with the abuse of analgesics. There is a small number of medicines which have a proven prophylaxis effect in episodic and chronic migraine. Such a large market resulting from the epidemiology has been interesting for pharmaceutical companies for years which has led to the inventing of a group of medications referred to as triptans. This group owes its name to the presence of tryptamine in the molecule. Triptans are agonists of serotonin receptors – 5-HT1, mainly of the subtype B and D (5-HT1B, 5-HT1D), and they cause the constriction of vessels in the central nervous system. The result of the research carried out until now by pharmaceutical companies is the introduction of seven triptans into the market. Undoubtedly, they have achieved clinical and commercial success, however, over time it was found that they are not effective in every patient and that they induce specific adverse effects. The paper shortly discusses the pharmacokinetic aspect and the adverse effects and it more thoroughly presents particular triptans in terms of their effectiveness in comparison with the nonsteroidal anti-inflammatory drugs (if such papers have been published) and with other triptans. The conclusion includes several observations which the author deems worth attention and memorizing: 1) The biological/clinical effect of the new group of drugs referred to as triptans is similar to the effect of nonsteroidal anti-inflammatory drugs used for years. 2) The analysis of the data related to the safety of use indicates that these medications are not as safe as was thought. 3) In case of the failure of the therapy performed using one triptan another triptan should be applied because the resistance to one type of triptan does not imply the resistance to the remaining ones.

Keywords: headaches, migraine, triptans, pharmacokinetics, safety
Clinical efficacy of oral Souvenaid® as a non-pharmacological support in Alzheimer’s disease – a review
Aktualn Neurol 2017, 17 (2), p. 115–120
DOI: 10.15557/AN.2017.0012

Alzheimer’s disease is associated not only with cognitive, behavioural and daily functioning impairment, but also with some nutrition deficiencies. Regardless of dementia-related factors leading to malnutrition, the disease itself causes the lack of substances essential for synaptogenesis. Standard pharmacotherapy may be supported by specific dietary interventions, which have beneficial effects on neurotransmission. Souvenaid®, a specialist oral nutritional supplement containing a unique nutrient combination Fortasyn Connect™ that promotes the formation of new synaptic connections, is one of such solutions. Available data indicate safety and beneficial effects of this formulation on the cognitive status of patients with mild dementia due to Alzheimer’s disease. These effects were confirmed in both multicenter, randomised, double-blind European trials as well as in a Polish observational study including 12 patients. Although Souvenaid® appears to have no cognitive benefits in patients with more advanced stages of dementia, it contributes to an increase in the level of nutrients in these patients. A recent project known as LipiDiDiet, which investigated the effects of Souvenaid® on the cognitive status in patients with Alzheimer’s disease who have not yet been diagnosed with dementia, provided ambiguous data as no significant differences were found between the study and the control group for primary endpoints; however, it was demonstrated that regular intake of this formulation by patients with the earliest stage of disease was associated with improved secondary endpoints. The 2-year phase of the study confirmed that the substance is safe as well as that its form and the ease of its use may have positive effects on the nutritional status of patients with Alzheimer’s disease. However, final conclusions are still pending.

Keywords: Alzheimer’s disease, dementia, non-pharmacological support, nutraceuticals
A rare case of heparin-induced thrombocytopenia and cerebral venous sinus thrombosis with antiphospholipid syndrome and possible systemic lupus erythematosus
Aktualn Neurol 2017, 17 (2), p. 121–125
DOI: 10.15557/AN.2017.0013

Cerebral venous sinus thrombosis is a relatively rare type of stroke which can be complicated by intracerebral haemorrhage resulting often in poor prognosis. Antiphospholipid syndrome and systemic lupus erythematosus both have been associated with cerebral venous sinus thrombosis. Furthermore, a few cases combining heparin-induced thrombocytopenia with cerebral venous sinus thrombosis have been described in the literature. We present a 57-year-old female patient who was admitted reporting confusion and fever for 4 days. She was immobilized due to a thoracic vertebral fracture and received enoxaparin as a prophylaxis for deep venous thrombosis. A computed tomography scan demonstrated extensive cerebral venous sinus thrombosis and two ipsilateral haemorrhagic infarcts. Moreover, the patient was serum-positive for heparininduced thrombocytopenia antibodies and had persistent fever. A thorough immunological and serological investigation turned out consistent with antiphospholipid syndrome with possible systemic lupus erythematosus. The patient was treated accordingly and was finally discharged one month later, afebrile, with mild neurological deficits.

Keywords: cerebral venous sinus thrombosis, intracerebral haemorrhage, heparin-induced thrombocytopenia, antiphospholipid syndrome, systemic lupus erythematosus