The article substantiates the need for the use of botulinum therapy in the management of bruxism as a movement disorder. We present the technique of injecting a new Russian botulinum neuroprotein Relatox into the masticatory muscles of patients with bruxism. We have the positive clinical effects of botulinum therapy, a decrease in the level of pain on the visual analogue scale, normalization of muscle activity according to the surface electromyography of masticatory muscles, a decrease in number of nocturnal bruxism according to abrasion on the foil surface on Brux Checker are shown.

Diagnosis of neuromuscular diseases is complicated by the variety of clinical manifestations and requires the use of additional methods, an important place among which is the pathomorphological study of skeletal muscle biopsy. Despite the fact that the procedure for taking a muscle biopsy is not technically difficult, to obtain informative material a multitude of conditions must be observed at the stages of pre-analytical processing of the obtained tissue samples. Violation of the technology of taking, storing and fixing the material contributes to the formation of artifacts that limit the possibilities for further analysis of the morphological changes in tissue biopsy. A comparison was made of the effectiveness of various methods for cryoprocessing of muscle tissue samples and the manufacture of histological specimens with a subsequent assessment of morphological changes. As a result, the main causes of artifacts were identified. The optimal method for processing muscle biopsy specimens is indicated, which makes it possible to prevent the appearance of artifacts as much as possible and to ensure the preservation of tissue for research.

Introduction. The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to mutations in the TSEN54 gene.

Purpose. Description of clinical and genetic characteristics of Russian patients with type 2A and type 4 of pontocerebellar hypoplasia.

Materials and methods. The diagnosis of pontocerebellar hypoplasia was established on the basis of the specific features of clinical manifestations and detection of mutations in the gene TSEN54 based on the analysis of the results of exome sequencing. 

Results. 8 patients with pontocerebellar hypoplasia caused by mutations in the TSEN54 gene were identified. 

Discussion. Based on the features of clinical manifestations and severity of the disease in 5 patients diagnosed pontocerebellar hypoplasia type 2A, and in 3 patients – type 4. In patients with type 2A of pontocerebellar hypoplasia discovered mutation c. 919G>T (p.Ala307Ser)  in a homozygous state. Patients with type 4 of pontocerebellar hypoplasia this mutation is detected in the compound heterozygous state with c.670_671delAA (p.Lys224fs) and c.1264C>T (p.Gln422fs).

Conclusion. The obtained results allow us to conclude that, as well as in European populations, the mutation c.919G>T (p. Ala307Ser) is a major in Russian patients with pontocerebellar hypoplasia 2A and 4 types, which account for about half of all cases of this disease group. The search for this mutation should be the first stage of molecular genetic diagnosis in patients with clinical and magnetic resonance signs of pontocerebellar hypoplasia.

Introduction. Particular problems in diagnosing hysteria are determined by its inordinate changeability, which explains the traditional ambiguity of ideas concerning its essence and the specific diagnostic problems. As we know, a significant number of patients with conversion and dissociative disorders present at neurological clinics, thus constituting the distinct cohort of “difficult patients”.
Study aim. Identifying the current clinical-dynamic regular patterns of hysterical disorders (taking into account the temporal pathological morphosis) for purposes of providing substantiation for their psychopathological essence and the optimal therapeutic-diagnostic tactics in respect of the pertinent cohort of patients.
Materials and methods. Between 2016 and 2018 at the “Practical Neurology” Medical Center we have examined 80 patients (71 women and 9 men) aged between 17 and 72. The criteria for inclusion into this group were the presence of hysterical symptoms as the main disorder in the clinical picture, and meeting the criteria for being the so-called «difficult patient», which are well-known in clinical practice. After having excluded the presence of organic neurological pathology, and taking into account the specifics of their current complaints (which correspond to conversion and somatoform disorders), the patients have been seen by a psychiatrist on condition of having obtained their informed consent. The examination was carried out by means of collecting anamnestic data from patients and people closely involved with them. Disorders were diagnosed in accordance with the ICD-10 criteria and with the use of the brief scale for assessing the mental status of MMSE (Mini-mental State Examination). Statistical processing of obtained data has been carried out with the use of Statistica 10. rus software. Comparative study of frequencies has been carried out with the F-test – φ* criterion; differences with р <0.05 were seen as reliable.
Results. Hysterical disorders in the examined patients have been differentiated within four clusters: 1) motor disorder (n = 24 (30 %)); 2) sensory disorders (n = 29 (36.2 %)); 3) somatoform disorders (n =5 (6.3 %)); and 4) dissociative disorders (n = 22 (27.5 %)). Comorbid mental disorders in the examinees were represented by: 1) affective disorders F30–39 (n = 42 (52.5 %)); 2) schizophrenia  spectrum disorders F20–29 (n = 20 (25 %)); 3) personality disorders F60–69 (n = 14 (17.5 %)); 4) organic mental disorders F00–09 (n = 3 (3.75 %)); 5) posttraumatic stress disorder F43 (n = 1 (1.3 %)). Hysterical disorders manifest high comorbidity with other mental disorders, above all, – the affective ones, schizophrenia spectrum disorders, and the pathology of personality. The nature of comorbid pathology determines the clinical-dynamic regular patterns of hysterical syndromes, the diagnostic problems of prime concern, and the tactics of therapy. 
Conclusion. Interdisciplinary approach contributes to improving the effectiveness of therapeutic-diagnostic assistance provided to patients with hysterical and comorbid mental disorders.

Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.

Dysimmune neuropathies are heterogeneous group of acquired immune-mediated diseases, accompanied by damage to the peripheral nervous system. As a standard therapy, prednisolone and intravenous immunoglobulins are used. Also encouraging efficacy is demonstrated by the use of a genetically engineered chimeric monoclonal antibody to the CD20 antigen found on the surface of normal and malignant B-cells – rituximab. Rituximab shows encouraging results. We reviewed the use of rituximab for dysimmune polyneuropathies and described our experience in administration of Lewis–Sumner syndrome and myelin-associated glycoprotein related neuropathy with rituximab.