Materials and methods. 285 Russian patients with amyotrophic lateral sclerosis (ALS) including 260 patients with a sporadic form and 25 with a familial form were examined for mutations in SOD1, C9orf72, TARDBP,  ANG and other genes and the presence of associations among polymorphic sites in ATXN2 (polyCAG) and VEGF (-2578С/А) genes.

Molecular genetic analysis was performed using direct sequencing, fragment analysis and real-time polymerase chain reaction. On the last stage, rare ALS candidate genes were evaluated using a next generation sequencing (NGS) panel.

Results. Total rate of the identified mutations in the examined ALS cohort was 9.5 %. The most frequently observed defects were mutations in the SOD1 (24.0 % in familial ALS and 4.6 % in sporadic ALS) and C9orf72 (pathological hexanucleotide repeat expansion was identified in 1.8 % cases of ALS, all sporadic) genes. The TARDBP gene didn’t contain any mutations, though in the ALS group deletion c.715-126delG located in intron 5 of the TARDBP gene was significantly over-represented – 38.0 % vs. 26.6 % (χ² = 13.17; р = 0.002). Mutations in the ANG gene were identified in 1.05 % of ALS patients (all cases were sporadic). In 1 (0.35 %) sporadic case a G1082A mutation in the DCTN1 gene was identified. The examined group significantly more frequently carried a risk allele of the ATXN2 gene with an “intermediate” (28–33)  number of CAG repeats – 5.0 % vs. 1.7 % in the control group (χ² = 3.89; р = 0.0486). In Russian ALS patients, an association between the disease and the presence of a risk А-allele and homozygote genotype А/А of -2578С/А polymorphism in the VEGF gene was identified (χ² = 7.14; р = 0.008 and χ² = 13.46; р = 0.001 for the rates in the ALS population and in the control population, respectively), which is confirmed by the odds ratio.

Conclusion. In the current article, molecular structure of ALS in the Russian population was examined, rates of individual genetic forms and mutation spectrum were established. This work is of considerable significance for medical genetic counseling and prevention of the disease in the affected families.

Objective. Comparison of Axoglatiran® FS (F-Sintez,  Russia) and Copaxone®-Teva (Teva Pharmaceutical Industries Ltd.,  Israel) efficiency and safety in patients with relapsing-remitting multiple sclerosis.

Materials and methods. In the study 150 patients with relapsing-remitting multiple sclerosis were randomized into 2 groups: patients in the 1st group (n = 100) received treatment with Axoglatiran® FS, patients in the 2nd group (n = 50) received treatment with Copaxone®-Teva. Vital signs of every patient in the study were monitored accompanied by physical examinations, neurological examinations with EDSS (Expanded Disability Status Scale) and MSFC (Multiple Sclerosis Functional Composite) evaluations, magnetic resonance imaging of the brain and lab tests. Results. Mean age (M ± SD) of the patients in the 1st group was 32.8 ± 8.7 years (20–54  years), percentages of men and women were 34 and 66 % respectively, mean age of multiple sclerosis onset was 27.93 ± 7.72 years (11–48 years). Median (Me), lower and upper quartiles estimates [LQ; UQ] on the EDSS scale were 2 [1.5; 3.0] steps (1.0–4.5  steps). In the 2nd group mean age of the patients was 35.2 ± 9.5 years (18–57  years), percentages of men and women were 24 and 76 % respectively, mean age of multiple sclerosis onset was 26.5 ± 6.9 years (18–47  years), EDSS estimates were 2.25 [1.5; 3.5] steps (1–5  steps). In the 1st group 88 (88 %) patients completed the study, in the 2nd  group 44 (88 %) patients completed the study. Among them in 73 (82.95 %) patients in the 1st group and 34 (77.27 %) patients in the 2nd  group the disease didn’t exacerbate (p > 0.05). In both groups no progression according to the EDSS and MSFC scale was observed (p > 0.05). Magnetic resonance imaging data showed that dynamics of the total number of T2 lesions, contrast-enhancing T1 lesions, atrophy degree estimated using internuclear index were comparable in both groups (p > 0.05). Safety profiles of Axoglatiran® FS and Copaxone®Teva were evaluated as satisfactory in both groups: local reactions were the most common adverse event (57.7 and 63.0 % in the 1st  and 2nd groups respectively).

Conclusion. Efficiency, safety and tolerability of Axoglatiran® FS is comparable with the reference medicine Copaxone®-Teva in patients with relapsing-remitting multiple sclerosis. This result allows to recommend the use of Axoglatiran® FS in clinical practice.

The problem of using nitrous oxide (“laughing gas”) is now important because young people often prefer this kind of entertainment. Regular short-term inhalation of nitrous oxide increases the risk of developing vitamin B₁₂ deficiency, which is an essential cofactor of important  metabolic processes. This article describes 2 clinical cases of neurological disorders in young adults who had used nitrous oxide. We demonstrate difficulties in the diagnosis, therapeutic tactics and prognosis. 

Background. Multifocal motor neuropathy (MMN)  is а chronical dysimmune disease, which can be treated with intravenous human immunoglobulin (IVIG).

Objectives. To follow up the sonographic changes of peripheral nerves in a patient with MMN treated with IVIG.

Materials and methods. A 42 y.o. woman with MMN receiving IVIG is described. The cross-sectional area (CSA) of median, ulnar nerves and spinal roots was measured with high-resolution ultrasound (HRUS) after five IVIG courses.

Results. Before treatment the asymmetrical CSA increase of median, ulnar nerves and C5, C6, C7 spinal roots was found. 7 weeks after the first IVIG, next 3 IVIG courses with 4 weeks’ intervals HRUS showed normalization of CSA of the peripheral nerves and significant decrease of CSA of the spinal roots; as soon as the interval between the fourth and fifth IVIG was prolonged up to 9 weeks the CSA of the peripheral nerves increased again.

Conclusion. The follow up of a MMN patient treated with IVIG confirms the positive sonographic changes of the peripheral nerves and spinal roots. The possible role of HRUS as a method for monitoring changes in the peripheral nerves due to IVIG should be discussed after a larger cohort of patients with MMN and similar diseases is investigated.