Мутации в гене LRRK2 встречаются у 1-5% пациентов со спорадической и у 5-20% пациентов с семейной формой болезни Паркинсона, а также у 1,8% здоровых лиц. Целью исследования явилось изучение вклада полиморфизмов rs7966550, rs1427263 и rs11176013 гена LRRK2 в развитии болезни Паркинсона. Исследованием были охвачены 49 пациентов с болезнью Паркинсона, а также 46 контрольных лиц. В результате выявлено, что носительство мутантного генотипа СС полиморфизма rs7966550 повышает шанс заболевания в 37,9 раз. По другим полиморфизмам значимые различия не обнаружены. Не выявлено взаимосвязи между генотипами изученных полиморфизмов и клинической картиной заболевания. По частоте различных генотипов трех изученных полиморфизмов гена LRRK2 статистически значимые различия по этнической принадлежности не выявлены.

Mutations in the LRRK2 gene occur in 1-5% of patients with sporadic form and in 5-20% of patients with the family form of Parkinson’s disease, as well as in 1.8% of healthy individuals. The aim of the research was to study the association of polymorphisms rs7966550, rs1427263 and rs11176013 in the LRRK2 gene with the development of Parkinson’s disease. The research covered 49 patients with Parkinson’s disease, as well as 46 control persons. As a result, it was revealed that the carriage of the mutant CC genotype of polymorphism rs7966550 increases the odds ratio by 37.9 times. There were no significant differences in other polymorphisms. There was no correlation between the genotypes of the studied polymorphisms and the clinical picture of the disease. Statistically significant differences in ethnicity and frequency of different genotypes in polymorphisms have not been identified.

The aim of the research. To assess the state of the microcirculation in the lower limbs using transcutaneous oximetry in patients with predominantly sensory forms of chronic inflammatory demyelinating polyneuropathy (CIDP). Materials and methods. The study involved 57 people with sensory variant of CIDP at the bas of the University Hospital KrasSMU named after Prof. V.F. Voino-Yasenetsky. The age of patients ranged from 12 to 75 years old, the age median was 28 years old. Methods of diagnosis: clinical neurological, neurophysiological. Results. During the transcutaneous oximetry using the equipment «Radiometer TC 4 series» (Copenhagen, Denmark) in patients with chronic inflammatory demyelinating polyneuropathy were predominated, together with normative indices, compensated disorders of tissue metabolism. It was combined with the clinical manifestations of the disease and reflects the degree of angiotrophoneuritic syndrome. Conclusion. Transcutaneous oximetry allows to verify the microcirculation disorders due to involvement nervi vasorum at chronic inflammatory demyelinating polyneuropathy (CIDP).

Pallesthesia is provided by type As fibers of peripheral nerves. Violations of vibration sensitivity primarily meet at polyneuropathy of class myelinopathy. Perspective for evaluation the degree of violation of vibration sensitivity is computer pallesthesiometry. The example of two own clinical observations of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and hereditary neuropathy Charcot-Marie-Tooth (NNSHMT) are demonstrated the possibilities of the computer pallesthe-siometry in the diagnosis of chronic peripheral polyneuropathy and in assessing the effectiveness of therapeutic measures.