Objective: Our aim was to develop and scientifically substantiate set of criteria for early(preclinical) diagnosis of neurodegenerative disorders with the assessment of a number of biomarkers, including molecular genetic analysis and positron emission tomography(PET), which allows assessing the risk of neurodegeneration.

Background: Millions of people suffer from neurodegenerative disorders worldwide. Parkinson’s disease(PD) is among the leading disease. Expected global PD rate is about 17 million people by 2040. There are several known genes (SNCA, PARK2, PINK1, PARK7 (DJ-1), and LRRK2) in which mutations are pathologically significant in the development of monogenic PD. Association of other genes with PD (for example:UCHL1, ATP13A2) requires further study. Genes (like GBA) are also known to be associated with an increased risk of developing PD. One of the promising methods for diagnosing PD – positron emission tomography(PET). The advantage of PET in the diagnosis of PD is the high sensitivity to changes of metabolism of visualized structures before the onset of atrophy. PET allows to determine the lack of dopamine, which makes it possible to detect the disease even at the early stage.

Method: For molecular genetic analysis we included 60 patients with sporadic and genetic PD forms. To identify genes(PARK2 and 7,LRRK2 and etc.)we used the MLPA technique. Analysis of the GBA gene was carried out by direct sequencing according to Sanger.

For PET with 18F-FDG we had 10 patients with PD and 10 healthy people for determination of diagnostic norm. To do it, we used graphs of the distribution density of the activity of the RFP using the Parsen-Rosenblatt method.

Results: When conducting MLPA analysis, none of the 60 patients revealed any mutations, which is apparently due to the low incidence of this mutations among patients of our region with diagnosis of PD. But analysis of the GBA gene revealed 6 different variants in 9 out of 60 examined patients.

Using PET, the standard indicators have been established that allow to confidently diagnose PD on the basis of PET examination (and to differentiate with healthy people).

Conclusion: Analysis in the GBA gene showed a similar frequency of occurrence in a sample of patients from our region as in European populations. Determination of a decrease in the uptake of 18F-flurodopa during PET allows to confirm the disease, regardless of the presence or absence of motor manifestations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/combined-approach-in-the-diagnostic-of-parkinsons-disease/