Vol 10, No 2 (2016)

This paper presents the current data on the mechanisms of formation of visuospatial disorders in Parkinson’s disease (PD). Optical coherence tomography method was used to study the retina, using the protocols designed to assess the thickness of ganglionic layer, retinal nerve fiber layer, and macular map. Central structures were assessed using MRI of the brain followed by evaluation of the cortical thickness. Patients underwent neuropsychological tests, including tests designed to assess the severity of the disease, visuospatial perception, and cognitive functions. The results revealed the retinal and prestriate areas with the most significant changes in patients with different stages of PD, and allowed us to hypothesize the role of changes in the peripheral and central structures of the visual analyzer in formation of symptom complex of visuospatial disorders in PD.

Development of immunopathological reactions in the central nervous system (CNS) is one of the key events in the pathogenesis of multiple sclerosis (MS). Humoral immune responses with formation of antibodies to the components of the myelin sheath play an important role. However, the targets for antibodies, their contribution to the development of pathologic process, and stages of the disease, where they play the most important role, are still not quite clear. In this study, we investigated the frequency of detection of antibodies to myelin glycolipids in MS and their relationship with clinical features of the disease. The results of the study showed that patients with MS demonstrate a trend towards more frequent detection of antibodies to glycolipids and sulfatide in blood serum, which is especially pronounced in patients with secondary progressive course. Antibodies to GM1 ganglioside were significantly more frequently detected in patients with secondary progressive MS as compared to patients with remitting course and healthy volunteers. These results are indicative of the fact that antibodies to lipids may participate in the development of demyelinating and neurodegenerative processes in MS and be the markers of disease progression. Further development of the concept of the mechanisms of humoral response to myelin lipids in MS and identification of the most significant antibody targets will facilitate the development of new approaches to prediction of disease course and discovery of new targets for immunomodulating therapy.

Development of new approaches to the treatment of Alzheimer’s disease (AD) is an actual problem of modern neurology owing to high prevalence of AD in the population and severe irreversible disability resulting from this disease. We investigated the effects of new peptide compounds, β-casomorphin-7 and colostrinin, in two complementary AD models in rats (with injection of β-amyloid into the nucleus basalis of Meynert and injection of streptozocin in the ventricles of the brain). Peptides were injected intranasally within 10 days after the onset of AD symptoms induced by neurotoxins. Injection of β-casomorphin-7 and colostrinin had similar effect on the behavior and cognitive function of rats with both amyloid and streptozocin AD model: there was statistically significant increase in locomotor activity and orienting responses, as well as improvement of animals’ cognitive functions. Colostrinin had stronger positive effect on the behavior of rats with induced AD, whereas β-casomorphin-7 had an effect on both sham-operated and model animals, which is indicative of the general neurotropic potential of this peptide. The proposed experimental approaches improve the capabilitiesof investigation of novel biologically active compounds aimed at prevention and treatment of neurodegenerative diseases.

DYT6 is a recently described autosomal dominant form of primary dystonia with early onset of symptoms caused by mutations in THAP1 gene in chromosome 8. The incidence of this form in various populations is extremely variable and ranges from 1% to 25%. Knowledge of the molecular defect underlying the disease largely determines its prognosis and treatment approaches. The article presents the first in the Russian population case of DYT6 dystonia, which was confirmed by detection of c.424A> G (p.T142A) mutation in THAP1 gene. Clinical presentation included acute manifestation of symptoms at the age of 27 years with the development of left-directed latero-retrocollis. The incidence of this form of dystonia in our population of dystonic syndromes was 0.7%. We emphasize phenotypic polymorphism of DYT6 dystonia and the role of genetic testing in its diagnosis.