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Background: The article is devoted to one of the most common neurodegenerative diseases in the world-Parkinson's disease (PD), the prevalence of which in Russia reaches 140-150 people per 100,000 people. The clinical and anamnestic profile of a patient with PD is presented, the prevalence of motor and non-motor symptoms is reflected, and a comparative characteristic of the neurological deficit in the Siberian population of patients with other cohorts of patients with Parkinson's disease in different countries and ethnic groups is presented. Methods: We studied 140 patients with Parkinson's disease. A comprehensive assessment of neurological status was performed using the "Unified Parkinson's Disease Rating Scale (UPDRS)." In addition, we used the Beck Depression and MoCA scale test. Assessment of the presence and severity of olfactory dysfunction was performed using the Sniffin Stick odor identification test. The stage of PD was evaluated according to the classification of M. M. Hoehn and M. D. Yahr. Results: The cohort of the study was dominated by overweight patients with a higher level of education, with concomitant arterial hypertension, coronary heart disease, and dyslipidemia. The severity of motor and most non-motor symptoms directly correlates with the duration of PD and the stage of the disease. The predominant form of the disease was a mixed form, which was also noted in research cohorts in Canada and the UK. The Siberian cohort tends to be more prevalent in hyposmia, daytime sleepiness, orthostatic hypotension, and depressive and REM disorders. Conclusion: Our data show the importance of a comprehensive assessment of both motor and non-motor neurological deficits as well as the analysis of comorbid disorders and risk factors for the occurrence and progression of Parkinson's disease. They also show the prevalence of certain motor and non-motor symptoms in the Siberian cohort of patients with Parkinson's disease., (Copyright © 2020 Rozhdestvensky, Delov, Marks, Gaponenko and Khanokh.)

Multiple sclerosis (MS) is a serious, incurable neurological disease. In 2009, the ANZgene studies detected the suggestive association of located upstream of CD40 gene in chromosome 20q13 (p = 1.3×10(-7)). Identification of the causal variant(s) in the CD40 locus leads to a better understanding of the mechanism underlying the development of autoimmune pathologies. We determined the genotypes of rs6074022, rs1883832, rs1535045, and rs11086996 in patients with MS (n = 1684) and in the control group (n = 879). Two SNPs were significantly associated with MS: rs6074022 (additive model C allele OR = 1.27, 95% CI = [1.12-1.45], p = 3×10(-4)) and rs1883832 (additive model T allele OR = 1.20, 95% CI = [1.05-1.38], p = 7×10(-3)). In the meta-analysis of our results and the results of four previous studies, we obtain the association p-value of 2.34×10(-12), which confirmed the association between MS and rs6074022 at a genome-wide significant level. Next, we demonstrated that the model including rs6074022 only sufficiently described the association. From our analysis, we can speculate that the association between rs1883832 and MS was induced by LD, whereas rs6074022 was a marker in stronger LD with the functional variant or was the functional variant itself. Our results indicated that the functional variants were located in the upstream region of the gene CD40 and were in higher LD with rs6074022 than LD with rs1883832.

Multiple sclerosis is a classic multifactorial disease in which etiology interaction of external factors and structural features of a large number of genes plays an important role. Identifying risk factors for multiple sclerosis and creating an integrated model of pathogenesis are urgent tasks of neurology. Revealing true risk factors is possible only in studies with sufficient statistical power, so with a large amount of samples. We conducted the association study of CD40 gene's polymorphisms and multiple sclerosis among residents of the Russian Federation. The results demonstrated the need to combine data from different researchers in clinical studies to increase the power of the study.

In order to study specific features of remitting multiple sclerosis patients with different genotypes of polymorphic loci rs1800629 gene TNFα, rs6074022 gene CD40, rs10492972 gene KIF1B, rs187238 IL-18 gene, conducted clinical and electrophysiological examination of 149 patients with relapsing-remitting multiple sclerosis. Found that the most common symptoms of rapidly progressive relapsing-remitting multiple sclerosis were cerebellar and sensory disorders. Severity of pyramidal and cerebellar, stem, pelvic disorders, and thus the value of EDSS score was significantly higher in the group of patients with recurrent exacerbations during the year. Intensity changes of latencies of peaks I, III of short-stem evoked potentials and central motor conduction time determined by the ball on a scale EDSS. Genotype C/C polymorphism rs187238 locus IL-18 gene associated with frequent exacerbations of relapsing-remitting multiple sclerosis, high speed of progression of the disease and is characterized by marked changes in latency of peak V ABR and VEP P100. With polymorphic locus allele rs187238 IL-18 is associated with more frequent exacerbations PPC (OR=1.714 (1.051-2.797); p=0.02), and increases the risk of rapidly progressive nature of the disease in a 2-fold (OR=2.040 (1.140-3.650) p=0.015).

To study the features of multiple sclerosis (MS) with child age-at-onset, we examined 254 patients with confirmed diagnosis of MS. The disease developed at the age younger than 16 years in 27 patients. A control group included 303 healthy volunteers. Correlations between the rate of disease progression and the age-at-onset were found. The more benign course of MS was noted in patients with earlier disease onset. There were more women and the disease frequently manifested with retrobulbar nephritis in the group with early onset. The results indicated that a G allele of -308G/A polymorphism of the TNF-α gene might be a risk factor for MS. The A allele may play a protective function. No association between -137G/C IL-18 polymorphism and MS was found. These polymorphisms did not contribute to the predisposition to early onset of MS.

Axonal degeneration is responsible for the progression of the irreversible destruction caused by multiple sclerosis (MS) resulting ultimately in permanent disability. The KIF1B protein, a member of the kinesin family, is necessary for axon growth and myelination in vertebrates. In the recent paper, Aulchenko et al. suggested that the rs10492972[C] variant of KIF1B increases susceptibility to MS, but three following replication study didn't confirm this association. We studied the association of the polymorphic locus rs10492972 present in the KIF1B gene with genetic predisposition and its occurrence in clinical presentations of MS patients resident in western Siberia and the Sakha Republic (Yakutia), Russia. rs10492972 has been genotype in 833 samples of MS patient and 689 healthy controls. Distribution of rs10492972 genotypes corresponded with a Hardy-Weinberg distribution in both the MS patient and control groups, with the frequency of the C allele being the same in both groups (33%). Frequencies of occurrence of the genotypes were not shown to be associated with different disease courses or other characteristics of the disease, such as age at onset or duration. A complete meta-analysis of all analogous studies published to date showed that the protective effect of the rs10492972[C] allele is statistically significant (OR=0.95, C.I.95% [0.90-0.99], p=0.02)., (Copyright © 2011. Published by Elsevier Inc.)

Phagocyte activity and the interferon system was studied in 40 patients with multiple sclerosis (MS), including 22 patients with remitting MS type, 7 patients with primary progressive MS and 11 patients with secondary progressive MS. A control group included 15 healthy people. Changes in the parameters studied were found in all groups of patients. The most marked changes in the phagocyte section of immunity and in the interferon system were seen in patients with primary progressive and secondary progressive MS. The data obtained may be used in diagnosis and choice of treatment in MS patients.