[Dolichoectasia of the basilar artery caused by cystic medial degeneration, as a cause of neurovascular conflict with damage to the trigeminal, facial and vestibulocochlear nerves]. / Dolikhoektaziya bazilyarnoi arterii, obuslovlennaya kistoznoi medial'noi degeneratsiei, kak prichina neirovaskulyarnogo konflikta s porazheniem troinichnogo, litsevogo i vestibulokokhlearnogo nervov.

Cystic medial degeneration (Gsell-Erdheim syndrome, cystic medial necrosis) is considered to be a nonspecific histological manifestation of a group of diseases characterized by degenerative changes in the media, affecting primarily the aorta and adjacent branches, which leads to destruction of the vessel wall, followed by its expansion and, possibly, rupture. The authors describe a case of a 65-year-old female patient with a neurovascular conflict of the three cranial nerves with dolichoectatic basilar artery due to cystic medial degeneration. As a result, the patient has clinical manifestations in the form of hemifacial spasm, trigeminal neuralgia and vestibular paroxysmia. Data from instrumental studies and treatment provided are presented. Neurovascular conflict can be identified in various diseases and is characterized by the complex etiology. The most common clinical manifestations of neurovascular conflict are trigeminal neuralgia, hemifacial spasm, glossopharyngeal neuralgia, and vestibular paroxysmia.

[Non-invasive ventilation of the lungs in neuromuscular diseases]. / Neinvazivnaya ventilyatsiya legkikh pri nervno-myshechnykh boleznyakh.

OBJECTIVE: To describe a clinical case and to analyze our own practice of using NIVL in a myasthenia (MG) gravis patient. MATERIAL AND METHODS: Since 2018 in the Republican Research and Clinical Center of Neurology and Neurosurgery NIVL has been performed in 29 patients (21 amyotrophic lateral sclerosis patients and 8 MG patients). The research was carried out using the portable polysomnograph Polymate YH-1000C (BMC, China) and in the Sleep Laboratory of the Republican Clinical Medical Center of the Presidential Administration of the Republic of Belarus using SOMNOlab V 2.19 (Weinmann, Germany). Respiratory support was provided by the Ventimotion 2 device (Weinmann, Germany). RESULTS: The article presents our own experience of using NIVL in MG patient and profound description of the diagnostic and therapeutic complex. The development of chronic respiratory failure in NMD is based on a violation of the ventilation-perfusion ratio in the alveoli as a result of the development of hypoventilation due to restrictive disorders (namely, due to weakness of the respiratory muscles). Compensatory mechanisms eventually lead to an increase in the work on the affected respiratory muscles that leads to the formation of a vicious circle. The use of NIVL provides adequate ventilation of the lungs providing rest for the respiratory muscles. Like any other medical intervention NIVL has indications and contraindications, advantages and disadvantages that are described in this article. CONCLUSION: The use of NIVL helps to reduce the risk and frequency of respiratory complications, the number and duration of hospitalizations that significantly affects the prognosis and course of NMD as well as improves the quality of life and the level of adaptation of patients.

[Alternating hemiplegia]. / Al'terniruyushchaya gemiplegiya.

Alternating hemiplegia, a rare neurological disease that manifests in children under the age of 18 months, is characterized by transient episodes of hemiparesis of an alternating nature in the waking period. In addition to transient hemiparesis, neurological symptoms in the form of choreoathetosis, ataxia, dystonia, autonomic dysfunction, ocular apraxia, nystagmus, seizures, dysarthria and intellectual disorders may develop. Mutation in the ATP1A3 gene is the cause of the disease in more than 75% of patients. In some cases, the use of flunarizine, adenosine triphosphate and a ketogenic diet can reduce the frequency and duration of hemiplegic attacks. The authors report a case of a patient with alternating hemiplegia caused by a heterozygous mutation in exon 8 of the ATP1A3 gene (chr19: 42489098A>T, rs606231428), resulting in an amino acid substitution at position 335 (p.Val335Asp, NM_001256214.1). The use of flunarizin in a dose of 5 mg/day significantly reduces the number and duration of seizures, while oral adenosine-5-triphosphoric acid in a dose of 20 mg/kg/day is not effective.

[Psychogenically induced narcolepsy]. / Psikhogenno-indutsirovannaia narkolepsiia.

Based on own clinical experience in diagnostics and treatment of 4 patients, the authors describe main clinical presentations of narcolepsy. A case report of a 20-year female patient with psychogenic narcolepsy induced by a conflict in the family is described in details. According to polysomnography and Multiple Sleep Latency Test, a reduction in latency to sleep is 22 sec - 3 min 30 sec and the time of occurrence of REM sleep is 7 min 30 sec. The diagnosis is made on the basis of diagnostic criteria of narcolepsy. On average, it takes about 7-10 years to diagnose narcolepsy that reduces the quality of life of patients and leads to social and household maladaptation. Physicians should be wary of early identification of this disease for dynamic monitoring, the appointment of symptomatic therapy, prevention of anxiety and depression and the generation of behavior algorithm in the patient and his relatives in order to maximize social and household adaptation.

[Sleep-disordered breathing in motor neuron disease]. / Rasstroistva dykhaniia vo sne pri bolezni dvigatel'nogo neirona.

AIM: To study sleep-disordered breathing (SDB) in patients with motor neuron disease (MND). MATERIAL AND METHODS: Ninety-two patients, 50 women and 42 men, were examined Median age was 62 [55; 67.5] years, MND duration 12 [8.9; 27.1] months. The control group consisted of 46 patients (26 men; 20 women). A portable polysomnographic study (PSG) (Polymate YH-1000C (BMC, China)) was conducted immediately after the diagnosis of MND, that is, at a relatively early stage. RESULTS AND CONCLUSION: Significant changes in PSG in comparison with the control have been revealed. Significant differences were found between the results of PSG in MND patients with different disease onsets. The most vulnerable to the development of SDB were patients with bulbar onset of amyotrophic lateral sclerosis. Minimal SpO2, index of desaturation, duration of apnea can serve as markers for the analysis of SDB during screening studies based on established correlations.

[Neurospecific proteins in cerebrospinal fluid and in the bloodserum of patients with amyotrophic lateral sclerosis]. / Neirospetsificheskie belki v tserebrospinal'noi zhidkosti i syvorotke krovi u patsientov s bokovym amiotroficheskim sklerozom.

AIM: To determine concentrations of neurospecific enolase (NSE) and S100b protein in bloodserum and cerebrospinal fluid (CSF) in patients with amyotrophic lateral sclerosis (ALS) with different forms (onset) and duration of ALS. MATERIAL AND METHODS: Concentrations of NSE and S100b in serum and CSF were studied in 86 patients with different forms and duration of ALS. RESULTS AND CONCLUSION: Concentrations of NSE and S100b protein in CSF were significantly higher in the group of patients with bulbar form and in the group with duration of disease less than 1 year compared to the control group. There was a negative correlation of S100b protein in CSF with ALSFRSR score in the group of patients with bulbar ALS. An increase in NSE concentration in CSF and serum in patients with cervico-thoracic form of ALS and in patients with disease duration from 1 to 4 years was found. Concentrations of protein S100b remained the same. A significant decrease in the concentration gradient of S100b protein (CSF/serum) in patients with disease duration more than 1 year suggests the disturbances of blood-brain barrier permeability with increasing ALS duration and confirms the role of these changes in the pathogenesis of the disease.

[A systematic review of using myorelaxants in treatment of low back pain]. / Sistematicheskii obzor po primeneniiu miorelaksantov pri boli v nizhnei chasti spiny.

A systematic review summarizes the results of studies on the efficacy of myorelaxants (tolperisone, tizanidine, thiocolchicoside or baclofen) in the treatment of acute nonspecific low back pain published up to Dec. 2017. The authors conclude that there are enough data to confirm the efficacy of myorelaxants in treatment of nonspecific low back pain, myorelaxants are recommended as monotherapy or in combination with analgesics or NSAID, the nonsedative drugs tolperisone or thiocolchicoside should be preferred.

[Emotional and personality characteristics of patients with dystonia]. / Émotsional'nye i lichnostnye osobennosti patsientov s myshechnymi distoniiami.

AIM: To examine emotional characteristics, especially personality profile, of patients with dystonia. MATERIAL AND METHODS: Three hundred patients with dystonia were enrolled in the study. Control groups consisted of 50 healthy individuals and 62 patients with hemifacial spasm (GFS). HADS, Beck depression inventory and Spielberger-Khanin anxiety scale were used. The 16 Personality Factors Questionnaire (16PF) was used to study personality profile. RESULTS AND CONCLUSION: Higher levels of anxiety and depression in patients with dystonia compared to the control groups were identified. The level of anxiety and depression was not correlated with disease severity. Personality profile study confirmed the high level of anxiety in patients with dystonia and additionally showed increased emotional instability and poor emotional control. Intellectual personality characteristics of patients with dystonia had no differences compared to the control groups. An analysis of socio-psychological characteristics of personality in patients with dystonia and GFS showed restricted interpersonal and social communications since the motor defect noticeable to others leads to severe social exclusion and the desire for self-isolation.

[Polysomnography in patients with amyotrophic lateral sclerosis].

OBJECTIVE: To study the characteristics of nocturnal sleep and reveal breathing disorders during sleep in ALS patients using polysomnography. MATERIAL AND METHODS: The study included 29 patients with the established diagnosis of ALS, 17 women and 12 men, median age 65 [59; 68] years; mean illness duration 12 [22.9; 27.1] months. The control group consisted of 46 volunteers without complaints of sleep disorder and sleep apnea. The sleep diagnostic system Somnolab 2 Weinmann, Germany was used. RESULTS AND CONCLUSION: An increased level of awaketime and a significant decrease in amount of deep sleep and REM sleep were revealed in ALS patients. Sleep breathing disorders are found significantly more often in ALS patients, mainly as alveolar hypoventilation syndrome and less frequently as obstructive sleep apnea. The lower level of mean and minimum blood oxygen saturation and increased respiratory rate were detected. These changes are possibly due to the presence of restrictive respiratory disorders. These disturbances reduce the total duration of sleep, destroy it's structure, exerting a direct influence on the life quality in ALS patients, disrupting their domestic and social activity, contributing to the development of neuropsychological and behavioral disorders.

[Efficacy and safety of transcranial magnetic stimulation in the treatment of rare forms of muscular dystonia].

OBJECTIVE: To evaluate the efficacy and safety of repetitive transcranial magnetic stimulation (rTMS) for the treatment of patients with dystonia. MATERIAL AND METHODS: Authors treated 66 patients with segmental and generalized forms of dystonia, writer's cramp and oromandibular dystonia. The degree of dystonia severity was assessed using the Burke--Fahn--Marsden scale. RESULTS AND CONCLUSION: rTMS treatment of the motor cortex region decreased dystonic hyperkinesis severity. There was a significant decrease in scores on the Burke--Fahn--Marsden scale (p<0.05). This method was well-tolerated. No side-effects were observed, with the exception of one patient, who wished to discontinue treatment because of the twitching of facial muscles during rTMS. The results of the study allow to recommend wider adoption of this method in complex treatment and rehabilitation of patients with rare forms of dystonia.

[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

OBJECTIVE: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. MATERIAL AND METHODS: Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes. RESULTS AND CONCLUSION: DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients). The authors described clinical and electrophysiological characteristics and presented a diagnostic protocol. Identification of the mutation makes it possible to confirm the clinical diagnosis, assess genetic risks for the outcome and perform a prenatal DNA diagnosis in HNPP families.

The Use of Autologous Mesenchymal Stem Cells for Cell Therapy of Patients with Amyotrophic Lateral Sclerosis in Belarus.

We studied a new method of treatment of amyotrophic lateral sclerosis with autologous mesenchymal stem cells. Autologous mesenchymal stem cells were injected intravenously (intact cells) or via lumbar puncture (cells committed to neuronal differentiation). Evaluation of the results of cell therapy after 12-month follow-up revealed slowing down of the disease progression in 10 patients in comparison with the control group consisting of 15 patients. The cell therapy was safe for the patients.

[Ecstatic seizures].

Ecstatic seizures is a rare manifestation of epilepsy. They were described for the first time by F.M. Dostoevsky. Currently, the description of ecstatic seizures is possible to find in the scientific literature. The description of the own observation of a patient with emotional-affective seizures is presented. A role of the anterior insular cortex in the ecstatic seizures origin is discussed. The similarities between the feelings reported during ecstatic seizures and the feelings experienced under the effect of stimulant addictive drugs are described. The possible reasons of the low frequency of emotional-affective seizures are considered.

[Statokinetic characteristics of vestibular dysfunction in patients with vascular compression of the cochleo-vestibular nerve].

AIM: To study the state of statokinetic stability in patients with recurrent vestibular dysfunction caused by the vascular compression of the cochlea-vestibular nerve. MATERIAL AND METHODS: Authors examined 30 patients with recurrent vestibular dysfunction in which neuroimaging studies revealed the vessel adjacent to the cochlea-vestibular nerve. Statokinetic stability evaluation was selected as a neurophysiological indicator of the cochlea-vestibular nerve hyperactivity syndrome. RESULTS AND CONCLUSION: The correlation of the statokinetic stability indicators with the functional tests used and the side of the vascular compression of the cochlea-vestibular nerve has demonstrated high sensitivity of the statokinetic function to the turning of the head to the side of the neurovascular interaction with the decrease in stability in 17 (77.3%), as well as the minor in 15 (68.2%) and marked in 7 (31,8%) cases worsening of the statokinetic function during optokinetic stimulation (p<0.05). High diagnostic value of computer stabilometry with biological feedback in the objectification of the vestibulovegetative syndrome and detection of latent vestibular dysfunction in the patients with proven vascular compression of the cochlea-vestibular nerve has been shown.

[The clinical manifestations and neurophysiological features of long-lasting paroxysmal vertigo:theanalysis of the original observations].

The objective of the present study was to elucidate specific features of etiology and pathophysiology of recurring chronic vestibular dysfunction. It included 90 patients with this pathology of whom 24 (26.6%) presented with vascular compression of the vestibulocochlear nerve diagnosed by means of high-field MRI. This method revealed the high frequency of positionally-dependent vestibular dysfunction associated with neurovascular interactions. Analysis of the state of vestibular dysfunction during the attack-free periods demonstrated the signs of latent vestibular dysfunction in 20 (83.3%) patients. The results of the study provide additional information on the prevalence of vascular compression of the vestibulocochlear nerve in the patients presenting with recurrent chronic dizziness; moreover, they make it possible to evaluate the state of vestibular function and develop the new diagnostic criteria for vestibular paroxismia.

[The otoneurologic aspects of <>].

This review is focused on the problem of <> encountered by physicians representing different medical disciplines. A total of 9 pathogenic theories are considered with a special reference to the <> theory as the most popular among them. Three major variants of the severity of the clinical course of <> and symptoms of its latent form are described. The diagnostic tools ensuring the objective evaluation of these symptoms including various questionnaires and instrumental studies are discussed.

[Diagnostics of latent vestibular dysfunction based on the characteristics of provocative nystagmus].

The objective of the present study was to develop a new method for the diagnostics of latent vestibular dysfunction and estimate its effectiveness based on the characteristics of spontaneous nystagmus, provocative nystagmus, and vestibuloocular optokinetic reflexes in servicemen operating moving systems. Moreover, the study was designed to assess the diagnostic and prognostic value of the new method. The study involved a total of 95 patients in whom the vestibular function was evaluated by clinical methods. The analysis included parameters of spontaneous nystagmus and provocative nystagmus, vestibuloocular reflex and optokinetic nystagmus in the patients of different study groups. It was demonstrated that 83.33% of the patients presenting with the minimal neurologic deficit syndrome show the positive response in the Valsalva maneuver. The medical history of peripheral vestibular syndrome and syndrome of vertebrogenic vestibular dysfunction is significantly more frequently associated with positive results of the sinocarotid test (p<0.05) than other syndromes. Mean reactivity coefficients of the vestibuloocular reflex are high in both groups and show no asymmetry. Analysis of the likelihood ratio for positive responses confirms the prognostic value of individual algorithms and of the entire scheme of diagnostic examination for the detection of latent vestibular dysfunction.

[Optokinetic nystagmus associated with Parkinson's disease].

Optokinetic nystagmus is a complex many-level physiological reaction underlain by the mechanisms of oculomotor reaction and dependent on the correlated regulatory action of the upper parts of CNS. The objective of the present study was to estimate the quantitative parameters of optokinteic nystagmus in the patients presenting with clinically manifest Parkinson's disease (PD) with due regard for the character of optokinetic stimulation. It was shown that PD is associated with a decrease of velocity-related parameters of optokinetic nystagmus correlated with the severity of the disease. The decrease of velocity in the slow phase and the efficacy coefficient of vertical optokinetic nystagmus was more pronounced in comparison with horizontal nystagmus. It was totally absent in certain patients with stage IV of the disease which objectively reflects the overall motor deficiency associated with PD and manifest as the predominant involvement of mechanisms of the vertical oculomotor system.