In pediatric practice, epilepsy holds one of the leading places among neurological pathologies. Along with seizures, a child's intellectual impairment lowering quality of life plays a crucial role in social disintegration. Cognitive impairments occuring in idiopathic generalized epilepsies (IGE) and self-limited epilepsy with centrotemporal spikes (SeLECTS) considered benign have been widely investigated. However, available data suggest that such disorders result in multiple persistent alterations in the cognitive sphere. In this case, features of the epilepsy etiopathogenesis account for disease early onset and profoundly remodeled structures involved in the implementation of cognitive functions. Current review is aimed to summarizing data regarding developmental mechanisms and range of cognitive impairment in IGE and SeLECTS.

Among neurological adverse reactions in patients with schizophrenia treated with antipsychotics (APs), drug-induced parkinsonism (DIP) is the most common motility disorder caused by drugs affecting dopamine receptors. One of the causes of DIP is the disruption of neurotransmitter interactions that regulate the signaling pathways of the dopaminergic, cholinergic, GABAergic, adenosinergic, endocannabinoid, and other neurotransmitter systems. Presently, the development mechanisms remain poorly understood despite the presence of the considered theories of DIP pathogenesis.

Objective of the Review: To describe available methods of structural neuroimaging in Parkinson’s disease (PD). Key Points. PD is the second neurodegenerative disease in terms of prevalence; it is a significant medical, social and economic issue. Early diagnosis is the most promising method for the implementation of neuroprotective strategies and preventive therapy in PD. However, differential diagnosis of parkinsonian syndromes is one of the most complicated in neurology. The article describes use of methods of structural neuroimaging in PD diagnostics, in particular of MRI images weighed by magnetic susceptibility, MRI with Т1-weighed images, transcranial sonography. It is demonstrated that these methods can be efficient in patients at an early full-fledged PD stage, where differential diagnosis has to be made or confirmed. Conclusion. Modern methods of structural neuroimaging help not only prevent the causes of secondary parkinsonism, but also confirm PD, also at an early stage of the disease. Keywords: Parkinson’s disease, neuroimaging magnetic-resonance imaging, positron emission tomography, SPECT-imaging, transcranial sonography.

(1) Introduction: Extrapyramidal disorders form the so-called extrapyramidal syndrome (EPS), which is characterized by the occurrence of motor disorders as a result of damage to the basal ganglia and the subcortical-thalamic connections. Often, this syndrome develops while taking medications, in particular antipsychotics (APs). (2) Purpose: To review studies of candidate genes encoding dopamine receptors as genetic predictors of development of AP-induced parkinsonism (AIP) and AP-induced tardive dyskinesia (AITD) in patients with schizophrenia. (3) Materials and Methods: A search was carried out for publications of PubMed, Web of Science, Springer, and e-Library databases by keywords and their combinations over the last 10 years. In addition, the review includes earlier publications of historical interest. Despite extensive searches of these commonly used databases and search terms, it cannot be ruled out that some publications were possibly missed. (4) Results: The review considers candidate genes encoding dopamine receptors involved in pharmacodynamics, including genes DRD1, DRD2, DRD3, and DRD4. We analyzed 18 genome-wide studies examining 37 genetic variations, including single nucleotide variants (SNVs)/polymorphisms of four candidate genes involved in the development of AIP and AITD in patients with schizophrenia. Among such a set of obtained results, only 14 positive associations were revealed: rs1799732 (141CIns/Del), rs1800497 (C/T), rs6275 (C/T), rs6275 (C/T) DRD2; rs167771 (G/A) DRD3 with AIP and rs4532 (A/G) DRD1, rs6277 (C/T), rs6275 (C/T), rs1800497 (C/T), rs1079597 (A/G), rs1799732 (141CIns/Del), rs1045280 (C/G) DRD2, rs6280 (C/T), rs905568 (C/G) DRD3 with AITD. However, at present, it should be recognized that there is no final or unique decision on the leading role of any particular SNVs/polymorphisms in the development of AIP and AITD. (5) Conclusion: Disclosure of genetic predictors of the development of AIP and AITD, as the most common neurological adverse drug reactions (ADRs) in the treatment of patients with psychiatric disorders, may provide a key to the development of a strategy for personalized prevention and treatment of the considered complication of AP therapy for schizophrenia in real clinical practice.

(1) Background: to reveal the prevalence of non-motor disorders in Parkinson’s disease (PD), we analyzed both Russian and international studies on the issue of PD-associated non-motor disorders in Caucasian patients; (2) Methods: We have carried out a search for full-text Englishand Russian-language articles published during the last ten years (from 2010 to 2020) in PubMed, Scopus, Web of Science, Springer, Clinical case, and E-library databases using multiple versions of keywords and their combinations. (3) Results: General prevalence of PD-associated non-motor disorders proved to be high. At the same time, we did not find significant differences between the prevalence of cognitive, affective, or behavioral disorders in PD patients. However, depression was found to be more common in PD patients in the Russian Federation; (4) Conclusions: According to the results of our review, cognitive and affective disorders in PD represent the issues of major concern.

Objective of the Review: To describe available functional neuroimaging techniques for use in patients with Parkinson’s disease (PD). Key Points: Parkinson’s disease is a neurodegenerative disorder which affects 2-3% of people older than 65 years. The main neuropathological hallmarks of PD are an accumulation of alpha-synuclein aggregates in the cellular cytoplasm and a loss of neurons in the pars compacta of the substantia nigra, leading to dopamine deficiency. Clinical symptoms of the disease appear when the underlying neural impairment is already advanced, which significantly reduces treatment options. Over the two last decades, functional neuroimaging techniques such as positron emission tomography, single-photon emission computed tomography, proton magnetic resonance spectroscopy, and transcranial sonography have increasingly been used for diagnosing PD during patients’ lifetime and understanding the neuropathological mechanisms and compensatory reactions underlying its symptoms, as well as for monitoring the progression of PD. Conclusion: Modern functional neuroimaging techniques not only facilitate differential diagnosis of PD, but also make it possible to detect the disease at its early/preclinical stage. Keywords: Parkinson’s disease, neuroimaging, positron emission tomography, single-photon emission computed tomography, proton magnetic resonance spectroscopy, transcranial sonography.

Levodopa remains the gold standard of treating Parkinson's disease (PD). However, the inevitable complication of levodopa therapy is druginduced dyskinesias, which significantly limits the therapeutic capabilities of this group of drugs and requires treatment adjustment. At the same time, patients with PD show not only a wide interindividual variability in the response to levodopa treatment, but also differences in the frequency and time to onset of drug-induced dyskinesias. Therefore, genetic predisposition can play an important role in the development of complications of levodopa therapy. The paper reviews modern literature on the impact of mutations in the genes, the products of which are involved in the exchange of levodopa and are capable of provoking or, conversely, levelling the development of drug-induced dyskinesias in order to determine the possibilities of expanding the personalized approach to treating patients with PD.

НЕВРОЛОГИЯИсходы хирургического лечения эпилепсии И.Г.Арешкина 1 , М

This article considers the use of microRNAs as a possible biomarker of epilepsy. The presented studies have shown that microRNAs can be involved in the process of epileptogenesis by regulating the inflammatory response, apoptosis of neurons, and transcription factors involved in cell differentiation. Biological fluids (blood and CSF) of patients with epilepsy showed differences in the number of circulating microRNAs, which may allow further use of microRNAs as a diagnostic biomarker. Recent discoveries providethe sufficient source of new microRNA targets, but there are still significant problems of studying their role in pathogenesis and the possibility of their application in clinical practice.

Дмитренко Диана Викторовна — д. м. н., доцент, заведующая кафедрой медицинской генетики и клинической нейрофизиологии Института последипломного образования, руководитель Неврологического центра эпилептологии, нейрогенетики и исследования мозга Университетской клиники ФГБОУ ВО «КрасГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава России. 660022, г. Красноярск, ул. Партизана Железняка, д. 1. eLIBRARY.RU SPIN: 9180-6623. Е-mail: mart2802@yandex.ru Панина Юлия Сергеевна — научный сотрудник межкафедральной научно-исследовательской лаборатории медицинской генетики кафедры медицинской генетики и клинической нейрофизиологии Института последипломного образования, врач-невролог Неврологического центра эпилептологии, нейрогенетики и исследования мозга Университетской клиники ФГБОУ ВО «КрасГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава России. 660022, г. Красноярск, ул. Партизана Железняка, д. 1. eLIBRARY.RU SPIN: 1494-4301. Е-mail: mrs.yuliapanina@mail.ru Сапронова Маргарита Рафаильевна — к. м. н., доцент кафедры медицинской генетики и клинической нейрофизиологии Института последипломного образования, врач-невролог Неврологического центра эпилептологии, нейрогенетики и исследования мозга Университетской клиники ФГБОУ ВО «КрасГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава России. 660022, г. Красноярск, ул. Партизана Железняка, д. 1. eLIBRARY.RU SPIN: 4097-2915. Е-mail: sapronova.mr@yandex.ru Цель статьи: представить клинический случай ранней диагностики аутоиммунной эпилепсии с положительным клиническим исходом. Основные положения. Статья посвящена актуальной проблеме современной неврологии — аутоиммунной эпилепсии. Освещены основные понятия, представлен клинический случай ранней диагностики аутоиммунной эпилепсии на фоне аутоиммунного лимбического энцефалита. Заключение. Ранняя диагностика аутоиммунной эпилепсии имеет решающее значение, поскольку своевременное начало противоэпилептической терапии, иммуносупрессивного лечения увеличивает вероятность достижения ремиссии заболевания, уменьшает частоту и тяжесть эпилептических приступов. Ключевые слова: лимбический энцефалит, аутоиммунная эпилепсия, клинический случай, ранняя диагностика. DOI: 10.31550/1727-2378-2019-156-1-10-13

Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuro-muscular disorders. 80% of patients having CMT disease are diagnosed with per cavus deformity. Orthosis is widespread and varies widely in forms. The paper arises the necessity of habilitation at the earliest possible stage as only a few patients use it. The meta-analysis of 412 scientific papers concerning this problem demonstrates the getting better gate, balance and the stopping CMT progression which is scientifically proven. It is also shown that patients with CMT use low prevalence of orthotics, and demonstrate low compliance of patients (for various reasons), high expectations from this habilitation technique.

The use of antiepileptic drugs (AEDs) during pregnancy is associated with an increased risk of congenital malformations (CMF). Information on the teratogenicity of AEDs is contradictory. The potential negative effects of new-generation AEDs are less well known. Many physicians and patients face difficulties in establishing a balance between the risk of seizures during pregnancy and that of teratogenicity in the use of AEDs. In most foreign countries, there are national and international pregnancy and epilepsy registries that make possible to centralize and systematize information on the safety of AEDs and to also give a true picture of the state of the problem. The Russian pregnancy and epilepsy register (RPER) has been launched since 2017. RPER is a Russian national prospective and retrospective observational study, without interfering with the antiepileptic therapy prescribed by an attending physician to childbearing-aged patients living in the subjects of the Russian Federation. RPER is an independent research initiative and is implemented by neurologists and psychiatrists who provide assistance to women with epilepsy. The main goal of the RPER is to compare the risk of serious CMFs following the maternal intake of various AEDs and their combinations in different regions of the Russian Federation and to develop strategies for preventing CMFs.

Parkinson's disease (PD) is a multifactorial disease that develops in the presence of both genetic and environmental factors. In recent years, there has been sufficient information on the role of genetic predisposition in the development of not only familial cases, but also sporadic ones. A hereditary burden in PD may not be traced in cases of recessive inheritance with a low gene penetrance, as well as in a patient's death before the onset of the disease. Active introduction of molecular genetic methods, including next generation sequencing, can annually identify new gene mutations that underlie sporadic PD cases. This paper provides an overview of the current literature on the genetic aspects of PD with emphasis on the ethnic characteristics of the disease.

Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of the immunoglobulin mu chain switch. Mutation of this gene leads to spinal muscle atrophy with respiratory distress type 1 and CMT2S. This case report presents a 20-year-old male with genetically confirmed CMT2S having clinical respiratory involvement and symmetrically involved lower extremities. DNA sequencing revealed a previously unknown heterozygous mutation in the exone2 of the IGHMBP2 gene leading to the replacement of the amino acid in the 46 position of the protein (chr11q13.3: 68673587 G>C). These atypical features widen the clinical spectrum of CMT2S. This is the first described case of a previously unknown mutation in the Russian population with confirmation of its genetic study. In describing this clinical case, we also improve diagnostic management and try to increase the alertness of various doctors towards neuromuscular diseases, including CMT.

Parkinson's disease (PD) is a multifactorial disease that develops in the presence of both genetic and environmental factors. In recent years, there has been sufficient information on the role of genetic predisposition in the development of not only familial cases, but also sporadic ones. A hereditary burden in PD may not be traced in cases of recessive inheritance with a low gene penetrance, as well as in a patient's death before the onset of the disease. Active introduction of molecular genetic methods, including next generation sequencing, can annually identify new gene mutations that underlie sporadic PD cases. This paper provides an overview of the current literature on the genetic aspects of PD with emphasis on the ethnic characteristics of the disease.

Objective : to demonstrate the role of high field magnetic resonance imaging (MRI) in the diagnosis of early-stage Parkinson’s disease on a clinical case. Materials and methods . Patient S., 1962 (53 years), referred to the Neurological Center of Epileptology, Neurogenetic and Brain Research of University Clinic of the Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetskiy with of the early stages of Parkinson’s disease. The patient received the recommendation of a neurologist was not performed in connection with the doubts about the correctness of his diagnosis of the disease (diagnosed clinically). To confirm the diagnosis, the patient is recommended to carry out high field MRI of the brain according to the Protocol of neurodegenerative diseases, including images, weighted by magnetic susceptibility (SWI)  and magnetic resonance spectroscopy at the level of subcortical ganglia of the cerebral hemispheres and substantia nigra of the brain stem. Results. On brain MRI in SWI  mode revealed structural changes of the substantia nigra (absence of Nigrosome-1 on both sides) – early signs of MRI-negative cases of Parkinson’s disease. Conclusion. In this clinical example illustrates the role of high field MRI in the diagnosis of early-stage Parkinson’s disease. Should remain wary of doctors of primary health care (district internists, family practitioners, neurologists) regarding the debut of Parkinson’s disease even in patients younger than 50 years.