Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease within the spectrum of motor neuron disorders, selectively targeting central and peripheral motor neurons in the brain and spinal cord, with highly variable clinical manifestations. One rare form of ALS is progressive muscular atrophy (PMA), primarily characterized by the selective involvement of peripheral motor neurons and a slower, less aggressive progression compared to classical ALS. Currently, the scientific community lacks consensus on whether PMA should be classified as a distinct nosological entity or as a subtype of ALS.Recent advancements in genetic research have identified that familial and hereditary forms of ALS are most frequently linked to mutations in the SOD1, TARDBP, C9orf72, and FUS genes, among others. Moreover, increasing progress in genetic testing now enables the identification of mutant genes responsible for various phenotypes. Understanding the genetic underpinnings of motor neuron diseases is crucial for elucidating their pathogenesis, which may pave the way for the development of novel diagnostic and therapeutic strategies.This article presents a clinical case involving a patient with a PMA phenotype associated with the H49R mutation in the SOD1 gene. A comprehensive account of the patient’s anamnesis, clinical presentation, molecular-genetic findings, as well as results from instrumental investigations, including electromyography and magnetic resonance imaging, is provided. The article discusses the potential nosological autonomy of PMA and its association with the H49R mutation, referencing current data from both Russian and international studies. Additionally, the article highlights the challenges of differential diagnosis, particularly in distinguishing PMA from other neurodegenerative diseases with similar clinical profiles.This case contributes to the expanding knowledge of the heterogeneity of motor neuron diseases and underscores the importance of molecular-genetic testing in predicting disease prognosis and guiding patient management.

The aim of this study was to assess cognitive impairment in young people after a mild novel coronavirus infection (COVID-19). The study participants during the acute phase of the disease complained of general weakness, headaches, mental exhaustion, muscle and joint pain, decreased attention, decreased sense of smell, sleep disturbance, apathy, shortness of breath and a feeling of pressure in the chest. All complaints regressed after recovery, and their frequency did not differ from those of complaints in the control group. Neuropsychological examination revealed a bit higher level of depression (10.5 vs. 6.5 points on the Beck scale), some decrease in visual memory (11 vs. 11.5 pictures) and higher incidence of general asthenia (74% vs. 44%) in COVID-19 patients. There was no correlation between the severity of cognitive impairment and the duration of COVID-19. Thus, COVID-19 is mildly accompanied by the development of mild cognitive impairment in young patients.

Cognitive impairment is one of the frequent neurological manifestations of post-COVID syndrome. The aim of this study was to assess cognitive impairment in young people after a mild novel coronavirus infection (COVID-19). Materials and methods. The main group included 50 people with mild COVID-19 at the age of 19-35 years, incl. 17 (34%) men and 33 (66%) women. The control group included 50 people without a history of COVID-19, aged 18 to 33 years. All participants underwent neuropsychological testing: the Beck depression scale, the Spielberg questionnaire for identifying personal and situational anxiety, the subjective asthenia assessment scale (MFI-20), the 12-picture memory test, the 5-word memory test, the study of phonetic speech activity, and the Schulte test. Research results. Study participants who had COVID-19 during the acute phase of the disease complained of general weakness (90%), headaches (86%), mental exhaustion (72%), muscle and joint pain (66%), decreased attention (64%), decreased sense of smell (62%), sleep disturbance (60%), apathy (54%), shortness of breath (34%) and chest pressure (26%). All complaints regressed after recovery, and their frequency did not differ from those of complaints in the control group. Neuropsychological examination revealed a somewhat higher level of depression (10.5 vs. 6.5 points on the Beck scale), some decrease in visual memory (11 vs. 11.5 pictures) and a higher incidence of general asthenia (74% vs. 44%) in patients COVID-19 (p = 0.05). There was no correlation between the severity of cognitive impairment and the duration of COVID-19. Conclusions. COVID-19 is mildly accompanied by the development of mild cognitive impairment in young patients.

Abstract: A statistical analysis of stabilometric study results of 50 male patients with vibration disease (VD) from the effects of general vibration (GV) (average work experience 26,7±6,2) has been carried out. The control group (CG) included 50 men who have not been exposed to the general vibration. The compared groups were comparable by age: the average age of patients with vibration disease was 56.34+5.15, patients of the control group-58.22+-7.05. The study of the support symmetry and equilibrium function was carried out using the Romberg test on the St-150 stabiloplatform (Biomera, Moscow) in a vertical stand with European installation of feet in the positions of open (OE) and closed eyes (CE). A comparative analysis of the parameters of support symmetry in patients with VD from GV revealed a statistically significant sagittal asymmetry in the phases of OE and CE than in individuals of CG. Among the balancing parameters, the most informative parameters of computer stabilometry in patients with VD from GV were: an increase in the area of the statokinesiogram, a decrease in energy efficiency in both phases of the study, and an increase in the speed of the statokinesiogram in phase with CE. Computer stabilometry can be recommended as an additional objective research method in the diagnosis of early stages of VD from GV to improve the quality of periodic medical examinations.

Cerebral amyloid angiopathy (CAA) is a disease of the small cerebral vessels and it mostly affects older people. CAA is characterized by progressive deposition of amyloid-beta in small arteries and arteries of medium caliber, as well as in the capillaries. Sporadic amyloid angiopathy is a cause of recurrent cerebral hemorrhage and cognitive impairment in the elderly. The latest scientific researches and a case report of a patient who suffered from cerebral amyloid angiopathy were used in order to prepare this article. The diagnosis and treatment of CAA are considered.

The article presents the results of a clinical and genetic study of a Yakut family with hereditary spastic paraplegia (HSP). Patients with clinically diagnosed HSP and healthy family members were studied. The disease is clinically characterized as a progressive spastic paraplegia of the lower extremities concomitant peripheral neuropathy in advanced case. The methods of exome sequencing of the entire genome, molecular modeling of dynamin-2 and experimental reproduction of key elements of the HSP pathogenesis have been applied. Genetic analysis revealed a novel missense c.2155C> T, p.R719W mutation in the highly conserved GTP-effector domain of the dynamin-2 gene (DNM2). In experiments on HeLa cells, it was shown that mutant dynamin-2 affected endocytosis process. In-silico modeling determined that the identified mutation is located in the DNM2 bundle-signaling element and potentially disrupts the assembly and functional properties of the protein. Testing of this mutation in other Yakut families with HSP showed a negative result, which once again confirms the genetic heterogeneity of this pathology.

We have studied the impact of harmful physical factors of production on the development of occupational sensorineural hearing loss (OSHL) among civil aviation flight personnel and technological transport drivers in the mining industry of Yakutia. It was found that among flight personnel, OSHL is the only diagnosis of an occupational disease, the severity of hearing loss depends on age, length of service, and the level of excessive noise (typical pattern of OSHL). In car drivers, OSHL is combined with other diagnoses caused by exposure to local and/or general vibration, the clinical course is more severe, with a predominance of II and III degrees.

The concurrence of amyotrophic lateral sclerosis (ALS) with parkinsonism syndrome and dementia is described as Guam ALS, in which up to 70% of patients have a positive family history. The concurrence of parkinsonism with other neurological disorders, such as autonomic failure, dementia, cerebellar ataxia, visual disturbances, and pyramidal syndrome, is characteristic of some neurodegenerative diseases, for example, multiple system atrophy, dementia with Lewy bodies, progressive supranuclear palsy, and corticobasal degeneration. These diseases are common in the practice of a neurologist, have a detailed description and clear diagnostic criteria. The isolated concurrence of parkinsonism and ALS without other neurological disorders is extremely rare. This disorder is known as Brait–Fahn–Schwartz disease and is named after the scientists who first described this overlap syndrome. No cases of familial neurodegenerative disease concurrent with parkinsonism and ALS have been found in the literature. This paper presents the authors' own case of two siblings, one of whom is observed to have parkinsonism with ALS syndrome; and the other had Parkinson's disease.

Discovery of genetic influence on craving by Blum, and Noble allowed more research on genetic determinants of mental and physical health. It led to DNA Customization of nutraceutical products in humans. One such product KB220Z has been shown to reduce cravings by influencing gene expression. This and other products have made neuro-nutrigenomics an important field of scientific investigation. It offers promise of improving human health and wellbeing. Further, development of the Genetic Addiction Risk Score (GARSTM), which analyzes genetic profile to predict likelihood of developing chemical or behavioral addiction (Reward Deficiency Syndrome [RDS]) could potentially help in the identification of vulnerable individuals prior to the development of addictive behaviors. While customization of neuronutrients, is still at its infancy, there are only three such studies from our laboratory in the literature for RDS behaviors, it promises to have a significant role in near future. Our research suggests that Gene Guided Precision NutritionTM with specific polymorphic targeting may induce personalized treatment and or even relapse for RDS that includes both chemical and behavioral addiction. Plasma Metabolomic Profiles and Cognitive Function

Habilitation is an important part of a complex approach to treatment and rehabilitation of patients with severe movement disorders, including Parkinson's disease. Today, Parkinson's disease is one of the socially significant diseases in the World. The steady increase in the number of patients associated with the aging of the population and better diagnosis of primary disease. Unfortunately, treatment of Parkinson's disease in many cases includes only the pharmacological treatment. At the same time, a complex approach to the use of non-pharmacological methods of treatment and rehabilitation can improve the quality of patients' life. This article presents modern approaches physical habilitation in Parkinson's disease.

Materials and Methods: A group of healthy volunteers (24 people) and patients with SP-CIDP from Republic of Sakha (Yakutia) (42 people) and Krasnoyarsk region (87 people). Diagnostics Methods: Clinical neurologic, neurophysiological. Results: The results of stabilometry research of patients with SP-CIDP have revealed area expansion of pressure centre in phase EO and EC with deflection PC forward by anteropulsion type among patients with SP-CIDP from Republic of Sakha (Yakutia). Also in the Yakut group has been noted to have severer clinical course in comparison with inhabitants of Krasnoyarsk region. Conclusion: The method of computer stabilometry allows estimating objectively presence and degree of manifestation of sensitive ataxia in patients with SP-CIDP.