Gene therapy is a promising treatment approach for rare/orphan neurological diseases that have limited treatment options and no cure. This article provides a brief overview of different types of rare hereditary neurological diseases and discusses existing gene therapy drugs approved for their treatment. Despite challenges associated with the development and implementation of gene therapy, including cost, delivery, and long-term safety and efficacy, the potential benefits of gene therapy make it a compelling area of research for the treatment of rare hereditary neurological diseases.

The aim of the research is generalization of information about the most common foreign and domestic scales and questionnaires used in acute and chronic back pain (BP). The analysis of Russian-language and foreign literature was carried out with a search depth of 5 years (2016–2021) in the following databases: e-Library, PubMed, Oxford Press, Clinical Keys, Springer, Elsevier, Google Scholar. To diagnose back pain and assess the characteristics of its course in dynamics, both a standardized study is used: collection of complaints, anamnesis, objective examination, assessment of neurological status, as well as valid PRO. For timely diagnosis and monitoring of the development of BP in patients with osteochondrosis of the spine, a wide range of scales and questionnaires were proposed, which we ranged into 4 groups: scales for assessing the quality of life of patients with BP; scales for assessing the characteristics of pain in BP; scales for assessing disease outcomes in BP; scales for assessing disability in BP. The second part of the thematic review presents an analysis of the advantages and disadvantages of scales for assessing pain characteristics, disease outcome and disability in patients with BP. Patient-reported outcomes assessment tools for patients with BP are popular in the world medical practice, however, it is necessary to adapt to the use in domestic clinical practice of such scales as Pain Quality Assessment Scale and Pain Quality Assessment Scale Revised (PQAS and PQAS-R), The Patient Assessment for Low Back Pain - Symptoms (PAL-S), Orebro Musculoskeletal Pain Questionnaire (OMPQ).

Increasing the pace of informatization progress, the emergence of modern gadgets and their functionality and accessibility contribute to a significant and rapid growth in the number of users of health applications, which broadens opportunities for the promotion of mobile healthcare technologies. Recent achievements in computer science led to its accessibility and higher user interest, serving as an incentive for the development of mobile healthcare and the rapid expansion of its capabilities to provide medical services, including neurological patients. Global trends that are aimed at the creation of mobile medicine, indicate the relevance of the software products designed to assist patients with epilepsy. The authors have developed a unique algorithm and created a program for conducting post-marketing studies of antiepileptic drugs.

The purpose of this review was to study domestic and foreign studies and update knowledge about the frequency of the low back pain (LBP) occurrence among adults. The available full-text English and Russian publications from the following databases were analyzed: PubMed, Springer, Wiley Online Library, Taylor & Francis Online, US National Library of Medicine National Institutes of Health, ScienceDirect and eLIBRARY.RU. The search for publications was carried out by the following keywords and their combinations: low back pain; back pain; discogenic pain; neuropathic pain; lumbodynia; sacralgia; intervertebral discs pathology. The search depth is 5 years (from 2016 to 2021). 2082 publications were analyzed, 132 of them corresponded to the purpose of this study, 21 of them were full-text publications. In total, 21 studies have been analyzed over the past 5 years. In the Russian Federation and abroad. The average LBP frequency ranged from 0.05% in Israel to 83% in Sweden. Such a large spread of indicators may be due to several objective reasons: differences in the design and methods of the study; heterogeneity of samples by age (adolescents, young, adults, middle-aged and elderly); only men taking part in the study; differences in social status (students, military personnel, athletes, working pensioners). In this regard, it impossible to systematize the results of the studies analyzed by us. Our thematic review shows that LBP in modern neurology remains one of the most common pathology, despite the improvement of health care system, preventive and predictive medicine.

Hyperprolactinemia is one of the common adverse events of antipsychotic therapy. The role of genetic factors in the development of drug-induced side effects is being actively investigated. The present study examined the association of two polymorphisms rs2237748 and rs2299472 in the GRM8 gene encoding the glutamate metabotropic receptor type 8 with antipsychotic-induced hyperprolactinemia in 536 patients with schizophrenia from several regions of Siberia (Russia). The investigated polymorphisms are not associated with drug-induced hyperprolactinemia in patients with schizophrenia. There were no associations of the GRM8 gene polymorphisms with serum prolactin levels in patients taking antipsychotic therapy. Our results did not confirm the involvement of the GRM8 rs2237748 and rs2299472 in the development of antipsychotic-induced hyperprolactinemia.

The development of neurological adverse drug reactions (ADRs) from the extrapyramidal system while taking antipsychotics (APs) is well known. The common forms of neurological ADRs from the side of the extrapyramidal system are AP-induced parkinsonism (AIP) with a frequency of about 36% and AP-induced tardive dyskinesia (AITD) with an incidence of about 25%. Patients with AIP and AITD make up a significant proportion of patients in psychiatric hospitals and neuropsychiatric dispensaries with AP-induced extrapyramidal disorders requiring neurological care. These ADRs make a significant contribution to the structure of the overall morbidity and mortality of the population around the world. We presented a clinical example of 43 years old male, who developed acute AIP and AITD while taking APs. This condition was resolved with amantadine 200 mg/day after several unsuccessful attempts. It is also known that the patient had a father with Parkinson's disease in his anamnesis. The patient underwent pharmacogenetic testing of SNV rs1800497 of the DRD2 gene. According to the results the patient was a homozygous carrier of the major allele. These results did not show a positive association. At the same time, such a patient needs to undergo pharmacogenetic testing using a complete genetic risk panel for developing AIP, AITD, and Parkinson's disease.

The tension-type headache (TTH) and arterial hypertension (AH) are one of the most common conditions worldwide. The cumulative assessment of clinical and genetic predictors needs to be revised. The aim is designing a scale and algorithm for predicting the risk of the “TTH + AH” phenotype developing in outpatient clinics. The leading non-genetic predictors are emotional lability and personal uneasiness. The leading genetic predictor is the carriage of the minor T allele and the heterozygous CT genotype rs3782218, as well as heterozygous genotype GA rs7314935 of the NOS1 gene encoding neuronal nitric oxide synthase. There are scale and personalized algorithm for assessing the risk of the “TTH + AH” phenotype development. There is the higher the score, the higher the risk of “TTH + AH” phenotype development in hypertensive patients. The using of the presented scale and algorithm will allow timely identification of a risk group for the “TTH + AH” phenotype and avoid diagnostic errors.

New generation antidepressants (AD) are widely used as first-line treatment for generalized anxiety disorder (GAD) and considered safely than tricyclics. Some side effects of AD are transient and may disappear after few weeks of treatment, but potentially severe may persist for a long time or occur later. Cardiovascular disorders (abnormal heart rhythm, QT prolongation, arterial hypertension, orthostatic hypotension) are especially dangerous side effects. Genetic polymorphisms of the enzymes involved in the metabolism of antidepressants may be one of the causes of side effects development. The objective of this case report is to demonstrate that timely assessment of the risk of side effects using pharmacogenetic testing (PGx) could have influenced choice of an antidepressant, timely dose adjustment, avoiding ineffective appointments. Use of the PGx can help to optimize GAD pharmacotherapy, its introduction into clinical practice requires further research.

The article presents the results of transcranial magnetic stimulation of dorsolateral prefrontal cortex (DLPFC) in four patients with catatonia. The uniqueness of these observations arises from three factors. First, rehabilitation neuromodulation of catatonia was used in a personalized course of exposure to magnetic pulses, considering the intensity of regional cerebral blood flow (rCBF) in the affected area. Secondly, the entire course of treatment was carried out on an outpatient basis. Thirdly, the content of Gamma-aminobutyric-acid (GABA) and glutamate in the cerebral cortex was additionally studied before and after the course of transcranial magnetic stimulation (TMS). All four patients were diagnosed with catatonia as part of schizophrenia spectrum disorders in three cases and in one case within the structure of recurrent depression phase. All patients took monotherapy with atypical antipsychotics as the main psychopharmacotherapy, were compliant and gave informed voluntary consent. The effectiveness of TMS was recorded in three cases. There were no adverse events or complications in all 20 sessions.