THE ROLE OF INTERLEUKIN 1β GENE POLYMORPHISM IN DEVELOPMENT OF PREDOMINANTY SENSORY CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

The aim of the present study was a search for associations between the polymorphic allelic variants 3954 C>T (rs1143644) and -511C>T (rs16944) of IL1B gene in the patients with sensory predominant chronic inflammatory demyelinating polyneuropathies (SP-CIDP) from Krasnoyarsk Region and the Sakha (Yakutia) Republic. A total of 95 people were examined, having been divided into 2 groups according to their residence. The first group consisted of 42 patients living in the Sakha (Yakutia) Republic. The second group included 53 patients living in the Krasnoyarsk Region. It was revealed that the carriers of homozygous CC genotype in the 3954C>T locus were more often detected in patients from the Sakha (Yakutia) Republic, and the carriage of TT genotype is found exclusively in the patients from Krasnoyarsk Region. When comparing the different genotype frequencies in the -511CT locus, we did not reveal any statistically significant differences between the two groups of patients. Presence of the CC genotype of the 3954C>T locus was associated with a significantly increased risk of disease in the patients from Sakha (Yakutia) Republic, while carrying CT and TT genotypes at the locus 3954C>T and the TT genotype at the locus -511C>T, is associated with increased risk disorder among patients of the Krasnoyarsk Region. The frequency of carriage of various genotypes in the 3954C>T and -511C>T loci of the IL1B gene was prevalent among the patients from the Sakha (Yakutia) Republic, the association of genotypes of CC/CT prevailed in patients from the Krasnoyarsk Region (p = 0.005), as well as prevalence of CC/CC and CC/CT (p = 0.023). However, there was no statistically significant difference in occurrence of individual genotypes between the two study groups. When analyzing the carrier frequency of high-producing alleles of 3954C and -511C in patients with SP-CIDP, it was shown that they were significantly more common among patients from the Sakha (Yakutia) Republic and patients from the Krasnoyarsk Region than the low-producing 3954T and -511T alleles. Moreover, the 3954C allele was more often found in the Yakut group (p = 0.001), and in the -511C allele for the Krasnoyarsk group of patients (p = 0.05). The presence of 3954C and -511C alleles increases the risk of SP-CIDP development in patients from the Sakha (Yakutia) Republic, as well as carriage of 3954T allele in patients from the Krasnoyarsk Region

Треморография в клинической практике

Tremor is the most common type of movement disorders. In practice this differential diagnosis of hyperkinesis is diagnosed clinically and the use of additional methods of objective assessment of tremor increases the accuracy of diagnosis. The use of paraclinical methods of objective assessment of tremor improves the accuracy of diagnosis. Comparison of the neurophysiological parameters of tremor with clinical characteristics has a high diagnostic value, which justifies its use in the routine practice of neurologists. The purpose of the review is to analysis basic electrophysiological characteristics of pathological tremor, as well as the presentation of the material of its own observation.Дрожательные гиперкинезы относятся к наиболее распространенным видам двигательных расстройств. На практике дифференциальный диагноз дрожательных гиперкинезов ставится всегда клинически и применение дополнительных методов объективной оценки тремора повышает точность диагностики. Сведение нейрофизиологических параметров тремора с клиническими характеристиками имеет высокую диагностическую ценность, что оправдывает его применение в рутинной практике неврологов. Целью обзора является анализ электрофизиологических характеристик патологического тремора, а также представление материала собственного наблюдения

Tremorography in the clinical practice

Tremor is the most common type of movement disorders. In practice this differential diagnosis of hyperkinesis is diagnosed clinically and the use of additional methods of objective assessment of tremor increases the accuracy of diagnosis. The use of paraclinical methods of objective assessment of tremor improves the accuracy of diagnosis. Comparison of the neurophysiological parameters of tremor with clinical characteristics has a high diagnostic value, which justifies its use in the routine practice of neurologists. The purpose of the review is to analysis basic electrophysiological characteristics of pathological tremor, as well as the presentation of the material of its own observation

Screening for non-motor symptoms in Parkinson's disease using the NMSQuest scale

The clinical picture of Parkinson's disease (PD) includes a wide range of non-motor symptoms (NMS) that substantially worsen quality of life in patients. These symptoms are poorly diagnosed because they are not emphasized by patients themselves and their relatives. The low detectability of NMS can be attributable to the lack of awareness amongst specialists about a wide range of PD symptoms and to that of time at a visit for physician advice.Objective: to evaluate the effectiveness of using the screening scale to timely detect NMS in PD.Patients and methods. Examinations were made in 2 patient groups: 1) 95 PD patients aged 47 to 83 years (mean age, 64.91±7.66 years) (a study group); 2) 37 sex- and age-matched healthy individuals aged 48 to 77 years (mean age, 62.22±6.58 years) without signs of PD and PD of another etiology (a control group). To identify NMS, all the study participants filled out the NMSQuest scale.Results. The mean number of NMS per patient with PD was 9.13±4.81 in the study group and 5.43±3.4 in the control group (p<0.001).Symptoms, such as hypersalivation, hyposmia, dysphagia, nausea, vomiting, constipation, excessive sweating, decreased motivation, and a feeling of sadness, were statistically significantly more common in PD. There were no significant differences between the number of NMSs and the form of PD or convincing data on their relationship to age, disease stage, and the total equivalent dose of taken antiparkinsonian drugs (calculated with reference to levodopa).Conclusion. The use of questionnaires in patients with PD allows the timely detection of the majority of NMSs. Given the limited time for counseling the patient, especially at an outpatient stage, the questionnaires should be filled out by the patient while he/she is waiting for a doctor's consultation

Pharmacogenetics of drug-induced dyskinesias in Parkinson's disease

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

Familial neurodegenerative disease with parkinsonism syndrome and amyotrophic lateral sclerosis

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

Neuropsychological pattern of Parkinson's disease

The review deals with the problem of neuropsychological disorders in Parkinson's disease (PD), one of the most common neurodegenerative diseases in the world. A global search for foreign and Russian investigations in this topic in 2001 to 2016 has been carried out in the scientific databases Medline and Russian science citation index. Particular emphasis is laid on emotional, cognitive, and psychotic disorders that largely worsen quality of life and cause professional and social dysadaptation. The manifestations of and diagnostic criteria for impulsivecompulsive disorders in PD and the contribution of genetic and sociodemographic factors to their genesis are also depicted. Clinical neuropsychological assessment scales are assessed. Sleep disorders that are pathogenetically similar to neuropsychological disorders are characterized

Creutzfeldt–Jakob disease in the Republic of Sakha (Yakutia)

Creutzfeldt–Jakob disease (CJD) is a rare neurodegenerative disease caused by the accumulation of the pathological isoform of prion protein. The classic clinical presentation of CJD is characterized by rapidly progressive dementia, ataxia, myoclonus, and akinetic mutism at the terminal stage of the disease. Of the instrumental techniques, brain magnetic resonance imaging plays a leading role in clinical practice. The authors followed up 4 patients with probable CJD in the Republic of Sakha (Yakutia) in 2014 to 2019. All the patients had approximately the same age (50–60 years) at disease onset and onset with non-specific cerebral symptoms. However, the subsequent development of rapidly progressive dementia and other characteristic features might suggest CJD. The patients were found to have characteristic neuroimaging signs as hyperintensity of the caudate nuclei and pulvinars in the fluid-attenuated inversion recovery (FLAIR) and diffusion weighted imaging (DWI) modes to form the typical signal of hockey sticks, as well as hyperintensity of the gray matter in the DWI mode (the symptom of the «Venus necklace»). In 3 patients, the disease ended fatally within a year of its onset. The fourth patient with a disease duration of 6 months is being supervised at home. The authors reason that the diagnosis of CJD is now insufficient due to the similarity of its clinical symptoms at the onset with other disorders, including cerebrovascular and neurodegenerative diseases

Candidate Genes Encoding Dopamine Receptors as Predictors of the Risk of Antipsychotic-Induced Parkinsonism and Tardive Dyskinesia in Schizophrenic Patients

(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