[Thalamic lesion in tick-borne encephalitis].

Signal enhancement on T2-weighted images of the thalamus on one or both sides by magnetic resonance imaging (MRI) is among the most frequently observed neuroradiological findings in patients with acute tick-borne encephalitis. The article presents a clinical case of a patient who had an encephalo-polyoencephalomyelitic form of tick-borne encephalitis with MRI picture of a typical bilateral thalamic lesion. Such changes according to neuroimaging studies may have a clinical differential-diagnostic value, and the knowledge of these features by neuroradiologists and neurologists will contribute to the correct diagnosis of acute tick-borne encephalitis, especially most severe forms.

[Clinical manifestations of COVID-19 in children].

The neurological symptoms of COVID-19 in children (in Dyurtyuli area, Republic of Bashkortostan) are analyzed and brief review of the literature is undertaken in the paper. 137 children underwent swab test for COVID-19. The disease was diagnosed in 9 of them.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].

The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment).

[Anxiety and depressive disorders in Parkinson's disease].

This review presents the most recent data of worldwide research on anxiety and depressive disorders in patients with Parkinson's disease. Their characteristics and epidemiology, pathogenetic and clinical features, methods of diagnosis and treatment are presented. Depression occurs in 40-50% of patients with PD, anxiety in 17-43% of patients.

[Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan].

Background: Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier that the с.259C>G (р.

[Autonomic dysfunction in patients with multiple sclerosis].

Aim: To optimize the early diagnosis of the autonomic dysfunction in patients with MS.

Material And Methods: The main group consisted of 46 patients: 15 men and 31 women with MS (McDonald, 2005), the average age was 33.35±9.

[Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia].

Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal dominant form of the disease in Europeans is HSP associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried out in 52 unrelated families with HSP from Bashkortostan by SSCP and following sequencing.

[Cancer diseases in patients with multiple sclerosis in the Bashkortostan Republic].

A database on patients with multiple sclerosis (MS) of the Republican center of multiple sclerosis (Ufa city) is analyzed. The database includes 1436 patients. For the period 2005-2012, 4 female patients with cancer, including 2 patients with thyroid gland cancer, 1 patient with rectum tumor and 1 patient with breast cancer, were identified.

[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal forms of HMSN. We determined the spectrum and frequency of MFN2 gene mutations in patients from the Bashkortostan Republic (BR). Four different mutations were revealed in 5 out of 170 unrelated patients, i.

[Smoking as a risk factor of development and progression of multiple sclerosis (a review and experimental data)].

Epidemiological data on smoking influence on the development and course of multiple sclerosis (MS) are presented. The relative risk (RR) of MS for smokers was calculated as 1.3-1.

[The rate of free-radical oxidation in hereditary motor-sensor neuropathies and myotonic dystrophy].

The rate of free-radical oxidation in the blood of patients with hereditary motor-sensor neuropathies (HMSN) and myotonic dystrophy (MD) type I was evaluated by the generation of active oxygen forms, the content of the products of lipid peroxidation and the total blood antioxidant activity. The change in the generation of active oxygen forms was characterized by the increase in the spontaneous blood chemiluminescence in patients with HMSN compared to controls. In patients with MD, the concentration of the products reacted with thiobarbituric acid was identified.

[Cognitive disorders in patients with myotonic dystrophy type I: a clinical and magnetic resonance study].

We studied 20 patients with myotonic dystrophy (MD) type I, mean age 34.4±12.3 years.

[Randomized blind placebo-controlled study of the effectiveness of transcutaneous adaptive electrostimulation in the treatment of nonspecific low back pain].

The effectiveness of dynamic transcutaneous electrostimulation was compared to its imitation in patients with low back pain. Patients were randomized into two groups: 21 patients were treated with transcutaneous electrostimulation and 21 patients received placebo. Patients had one session of electrostimulation (20 minutes) daily during 7-10 days.

[Polymorphism of the prion protein PRNP gene and risk of multiple sclerosis development in ethnic Russians from Bashkortostan].

M129V polymorphism of prion protein gene PRNP has been studied in patients with multiple sclerosis (MS) and healthy ethnic Russians from Bashkortostan using allele-specific PCR. The genotype frequency distribution of the examined polymorphism in Russians from Bashkortostan was similar to that in European populations. MM, MV, and VV genotype frequencies in control group and in the MS patients were 50.

[Polymorphism of APOE gene and risk of development of the multiple sclerosis at ethnic Russians].

The multiple sclerosis is a complex disease of the central nervous system with the pronounced hereditary predisposition. The purpose of our research consisted in acknowledgement of the assumption on importance of apolipoprotein E gene (APOE) polymorphism in exon 4 in development of the multiple sclerosis in ethnic Russians. Research was lead on the samples independently collected in Moscow (106 patients and 189 persons of control group), Sverdlovsk area (54 and 109, accordingly) and republic Bashkortostan (119 and 285, accordingly).

A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease.

Evidence continues to accrue implicating mitochondrial dysfunction in the etiology of a number of neurodegenerative diseases. For example, Parkinson's disease (PD) can be induced by mitochondrial toxins, and nuclear DNA (nDNA) loci linked to PD have been associated with mitochondrial dysfunction. Although conclusions about the role of mitochondrial DNA (mtDNA) variants in PD vary, we argue here that this is attributable to the novel genetics of the mtDNA and the fact that clinically relevant mtDNA variation encompasses ancient adaptive polymorphisms, recent deleterious mutations, and somatic mutations.

[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].

Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein (Cx32, GJB1). The contribution of HMSN 1X to the structure of HMSN in the Republic of Bashkortostan was determined. The GJB1 mutations were detected in 18 out of 131 unrelated patients, which constituted 13.

[Quality of life of patients with primary headaches, strokes and myotonic dystrophy].

Results of the first comparative study using a Russian validated version of the Medical Outcomes Study Short Form-36 (MOS SF-36) are presented. Two hundreds and seventy-four patients with several neurological disorders - primary cephalgias (124 patients), strokes (120) and myotonic dystrophy (30) were examined. A remarkable decrease of quality of life (QOL) in all groups as well as between-group differences on QOL domains (physical, psychological, social and others) were observed.

[Analysis of the association of allelic variants of apolypoprotein E and interleukin 1 beta genes with multiple sclerosis in ethnic Tatars].

Multiple sclerosis (MS) is a multifactorial disease of the central nervous system. The apolipoprotein E (APOE) and interleukin 1 beta (IL1B) genes are considered to be candidate genes of MS. The aim of the study was to examine the hypothesis of the importance of APOE and IL1B gene polymorphisms in MS development in ethnic Tatars.

[Multiple sclerosis in ethnic groups of Bashkortostan Republic].

Clinical presentations and course of multiple sclerosis (MS) have been studied in ethnic groups of Bashkortostan Republic. An analysis of 4 groups of patients, 234 Tartars, 80 Bashkirs, 22 Chuvashes and 237 Russians, revealed that the prevalence of MS was the least in the Bashkirs--3 times less than in Tartars (chi2 = 7.84; p < 0.

[Glycosaminoglycans and their fractions in patients with hereditary neuromuscular disorders].

Hereditary neuromuscular disorders (HNMD), with population incidence 1:3000, are characterized in most cases by progressive course and treatment resistance and patient's disabling. To study the involvement of the tissue-connecting structures in the pathogenesis, glycosaminoglycans and their fractions were determined in blood serum. The test group involved 40 patients with hereditary myotonia, myodystrophy, neuropathy and spinal muscular atrophy and control one consisted of 27 healthy age- and sex-matched subjects.

[Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease].

A method for analysis of deletions and duplications of individual exons and groups of exons in the parkin gene (PARK2) in both homozygous and heterozygous states has been developed. The method is based on semiquantitative polymerase chain reaction (PCR). The method has been used for analysis of the frequency of deletions in gene PARK2 in patients with idiopathic Parkinson's disease from Bashkortostan.

[The effect of some medications used in the treatment of cerebrovascular diseases on free radical oxidation in the model systems].

The effect of 5 medications used in the treatment of ischemic brain lesions on free radical oxidation was studied. The efficacy level was evaluated by chemoluminescent changes in the model systems generating active oxygen species and lipid peroxides radicals. The most active antioxidants inhibiting chemo luminescence proved to be mexidol, cavinton, instenon.

[CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].

A DNA analysis of 72 patients from Bashkortostan clinically diagnosed with myotonic dystrophy and 54 their family members was conducted. CTG-repeat expansion in the myotonin proteinkinase gene was found in 67 (92%) patients and 12 their relatives without clinical symptoms of the disease at the moment of examination. A correlation between the most distinct clinical symptoms and CTG-repeat number has been studied.

[Expansion and mutation rate in CTG repeats in the myotonic dystrophy gene].

The CTG repeat of the myotonic dystrophy (MD) gene was analyzed in 62 MD patients and 54 healthy members of their families. A CTG repeat expansion was revealed in 57 (92%) patients and in 12 relatives who did not express clinical signs of MD. Family analysis showed that the CTG repeat number increased, which was associated with anticipation, decreased, or remained the same (17.