Neurology, Neuropsychiatry, Psychosomatics

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Vol 12, No 1S (2020): Спецвыпуск: рассеянный склероз
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Multiple sclerosis (MS) is a chronic autoimmune disease, in the pathogenesis of which the concurrence of demyelination of central nervous system (CNS) axons and neurodegeneration plays a role and which is accompanied by progressive neurological dysfunction. Long-term monitoring of patients with MS is needed to rate its severity according to existing scales; it is therefore very relevant to search for genomic markers that can predict the rate of disease progression at early stages. The impact of polymorphic variants in the PVT1 locus on MS severity has not been previously studied.

Objective: to analyze the association of the polymorphic variants rs4645948 in the MYC gene and rs2114358 and rs4410871) in the PVT1 genes with MS severity according to the Multiple Sclerosis Severity Scale (MSSS) separately and as part of biallelic combinations, as well as the possible linkage disequilibrium of the studied single nucleotide polymorphisms for establishing the independence of the observed associations.

Patients and methods. The investigation enrolled 468 Russian MS patients who did not take immunomodulating drugs before blood testing. The patients were divided into two groups: 1) relatively mild MS (MSSS ≤3.5) and 2) relatively severe MS (MSSS >3.5). The polymorphic variants in the PVT1 locus were genotyped by a real-time polymerase chain reaction assay.

Results and discussion. In the MS study group, the carriage of the allele of PVT1 (rs2114358)*G turned out to be associated with the severe course of the disease (pf=0.042; odds ratio (OR)=1.41). The significance of the association increases in the simultaneous carriage of this allele with another variant of the same gene – PVT1 (rs4410871)*T (pf=0.024; OR=1.58). There was no linkage disequilibrium between the components of the biallelic combination.

Conclusion. The polymorphic variants in the PVT1 locus are associated with the severity of MS.

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Pediatric-onset multiple sclerosis (MS) can lead to cognitive impairment (CI). In general, in early-onset MS, there are disturbances in cognitive processes, such as information processing speed, attention, and controlling functions. Also, unlike adults with MS, children show a failure in various spheres of speech activity. The age of onset in MS, its duration and recurrence rate can affect not only the accumulation of a stable neurological deficit, but also the state of the cognitive sphere.

Objective: to study of the features of CI in children and adolescents with MS; to assess the relationship of CI to clinical characteristics, such as age at onset in the disease and its duration.

Patients and methods. The study involved 45 pediatric and adolescent patients with an established diagnosis of MS, who underwent a general neuropsychological examination of the cognitive sphere (Luria’s tests) with transfer to a point system; in addition, psychometric techniques were used to assess attention, controlling functions, memory, verbal fluency, and various types of thinking. Clinical characteristics, such as age at onset in MS and its duration at the time of the examination, were also taken into account.

Results and discussion. The leading factors that combine certain symptom complexes of CI in children and adolescents with MS were established. These factors include attention, controlling functions, auditory-verbal and visuospatial memories, various spheres of speech activity. Early-onset MS (at age of 5–8 years) was ascertained to have a greater impact on the formation of speech and controlling functions than adolescence- onset (at age of 13–16-years).

Conclusion. The risk of cognitive deficit and subsequent disability was found to be highest in early-onset MS.

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Multiple sclerosis (MS) is a severe chronic CNS disease characterized by autoimmune inflammation, demyelination, and neurodegeneration. The interaction of mitochondrial and nuclear genomes is shown to be important in the formation of a predisposition to many diseases.

Objective: to analyze the association of MS with the carriage of biallelic combinations, including as components the polymorphisms of three genes of mitochondrial DNA (mtDNA) and those of 16 nuclear genes, the products of which are involved in the functioning of the immune system and may participate in the development of autoimmune inflammation in MS; and, if these combinations are identified, to determine the nature of an interaction between their components.

Patients and methods. The investigation enrolled 540 MS patients and 406 control group individuals; all were Russians. The mitochondrial genome was genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. APSampler software was used for multilocus association analysis. 

Results and discussion. The investigators identified five biallelic combinations that were associated with MS (p=0.0036–0.022) and possessed protective properties (odds ratio (OR) 0.67–0.75). The mitochondrial component of the identified combinations was the polymorphisms m.4580 (rs28357975), m.13368 (rs3899498), and m.13708 (rs28359178) mtDNA; the nuclear component was CXCR5 (rs523604), TNFRSF1A (rs1800693), and CD86 (rs2255214) gene polymorphisms. The interaction between the components of the identified combinations was additive.

Conclusion. The data obtained in the Russian population suggest that the combined contribution of the mitochondrial and nuclear genomes may affect the risk of developing MS.

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The incidence of multiple sclerosis (MS) is increasing in all age groups, including children and adolescents. Due to the severity and clinical presentations of the disease in children, sociopsychological aspects, including parent-child relationships (PCR), is the focus of attention.

Objective: to study of the characteristics of PCR in families of children with MS.

Patients and methods: Ten families of MS adolescents (a study group), and 10 families of healthy adolescents (a control group) were examined. The exclusion criteria were depression in a child and intellectual incapacity. The Family Adaptability and Cohesion Evaluation Scale, a family sociogram, and the parenting relationship questionnaire were used to assess PCR.

Results and discussion. The families of children with MS showed symptoms of mild or moderate depression in the mothers; a predominantly unbalanced type of the family structure; the needs of mothers and children to change the distance with all family members equally; low self-esteem of the child and parent; the desire of the latter to cooperate with the child.

Conclusion. PCR in families of children with MS requires further investigations.

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Cladribine tablets are a new drug for the immune reconstitution therapy of highly active multiple sclerosis (HAMS). After discussing the characteristics of action of the drug in clinical trials, the authors give their own experience of its use in the Moscow Multiple Sclerosis Center.

Objective: to assess their own experience with cladribine tablets in the treatment of HAMS patients in everyday clinical practice.

Patients and methods: In 2018–2020, a total of 14 patients with HAMS and an average exacerbation frequency of 2.42 per year (34 exacerbations) received a full cycle of cladribine therapy. The patients independently purchased the drug for individual indications. Prior to starting therapy and every subsequent 6 months, all the patients underwent contrast-enhanced magnetic resonance imaging (MRI) of the brain, cervical and thoracic spine, and chest X-ray, Expanded Disability Status Scale (EDSS) scoring, clinical blood analysis, lymphocyte subpopulation estimation, biochemical blood analysis. The levels of leukocytes, lymphocytes, and lymphocyte subpopulations were estimated after one- and two-year cladribine tablet therapy cycles.

Results and discussion. During a two-year cladribine tablet therapy cycle, there were only 2 exacerbations (0.1 per year); the EDSS values stabilized, while they slightly decreased; according to MRI, the number of foci declined substantially from 78 (an average of 3.12 per image) before treatment to 6 (an average of 0.2 per image) after 2 years of treatment. No serious adverse events were recorded in patients taking cladribine tablets. By the end of the first year of treatment, the level of lymphocytes returned to normal in all the patients. The similar picture was noted after the second cycle of therapy. More than two-thirds of patients showed a decline in CD19+ B lymphocytes. An anti-B-cell effect was recorded even in patients who had normal absolute lymphocyte counts, as shown by clinical blood analysis. The findings demonstrated the efficacy and safety of cladribine tablets in patients with HAMS.

Conclusion. Cladribine tablets are a highly effective treatment for HAMS.


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The current diagnosis of multiple sclerosis (MS) is based on confirmation of the disseminated pathological process in space and time in accordance with the McDonald criteria. Despite this, the search continues for specific markers of the disease, including those detected using neuroimaging techniques that have high sensitivity and specificity in the diagnosis of MS.

The paper considers the central vein sign, a new promising diagnostic one of MS. This sign refers to a parenchymal vein visualized in the focus of demyelination, by using special magnetic resonance imaging (MRI) modes. Studies show that the central vein sign has high sensitivity and specificity in the diagnosis of MS, allowing it to be differentiated from other demyelinating, vascular, and systemic diseases that have an MRI pattern similar to that of MS. According to various authors, a threshold of 40–50% perivenular lesions allows MS and MS-like diseases to be differentiated with high accuracy.

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Cognitive impairment (CI) occurs in 43–70% of patients with multiple sclerosis (MS) at both early and late stages of the disease. Cognitive deficit leads to disability regardless of the patient's physical condition and correlates with lower quality of life. A number of tests and batteries with good psychometric measures are used to assess the neuropsychological status of patients with MS. However, the validation and active clinical introduction of new or already existing neuropsychological tests remain relevant. Timely diagnosis of CI will be able to define the correct tactics of managing patients with MS and to monitor the efficiency of treatment.
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A number of clinical trials, reviews, and meta-analyses have been recently published, which show the effectiveness of rehabilitation in patients with multiple sclerosis (MS). It is necessary to investigate the evidence basis of various rehabilitation methods that have proven to be effective in the combination treatment of other neurological diseases. At the same time, the simple transfer of these methods to the practice of managing patients with MS may not only improve, but even worsen their condition. An important task is to analyze methods for evaluating the effectiveness of physical rehabilitation, which in some cases are not without drawbacks. Owing to up-to-date technologies, there are more accurate, clear, and informative analysis methods as numerical values, the use of which can most objectively evaluate the effectiveness of rehabilitation measures before and after their implementation, which is necessary to standardize rehabilitation algorithms in patients with MS.
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The main target for COVID-19 is the lung with the development of acute respiratory failure. But the virus also displays tropism to the central nervous, muscle, and immune systems. The paper gives the data available in the literature on nervous system damage and the characteristics of clinical and magnetic resonance imaging manifestations of brain damage in COVID-19. Among the neurological symptoms of COVID-19, there may be stroke, encephalitis, and neuropathy. An account is given of the features of multiple sclerosis patient management during the COVID-19 pandemic depending on the risk of developing coronavirus infection.

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)