Genetic aspects of Parkinson’s disease
Автор: Shpileva S.A., Kalinin V.A., Poverennova I.E., Natalevich S.P.
Журнал: Саратовский научно-медицинский журнал @ssmj
Рубрика: Нервные болезни
Статья в выпуске: 1 т.18, 2022 года.
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Objective: to analyze of genetic mutations in patients suffering from Parkinson's disease. To achieve this objective, domestic articles and dissertations were studied, as well as foreign literary sources placed in scientific databases such as PubMed and Medscape. The list of references consists of 25 scientific researchs published from 2015 to 2022. In a result of generalization and systematization of the data, it was found that mutations in different gene loci lead to different clinical phenotypes of Parkinson's disease, which can help predict the course of the disease. It was also determined that the mutation in the GBA gene is the most common genetic defect in the Russian population. Determination of genetic mutations that cause Parkinson's disease in real clinical practice will allow diagnosis and treatment of the disease at the premotor stage, especially in people with a burdened family history.
Parkinson's disease, gba, lrrk2, snca, parkin
Короткий адрес: https://sciup.org/149141124
IDR: 149141124