The epidemiological, clinical, and genetic characteristics of Parkinson’s disease (in case of Zheleznogorsk)

Parkinson’s disease (PD) is the second most common human neurodegenerative disorder. Genetically, PD may be considered as both a monogenous and multifactorial disease. At the moment, much consideration is being given to a search for genetic markers for the LRRK2 6055G>T mutation in exon 41, which plays a role in the development of both monogenous and sporadic cases of PD. The paper presents the results of a 4-year epidemiological study of PD in the town of Zheleznogorsk (Krasnoyarsk Territory).

Objective: to study the epidemiology and clinical and genetic features of PD.

Patients and methods. There were three observation groups: 1) 135 patients with PD, including 72.6% with previously diagnosed PD and 27.4% with new-onset PD; 2) 44 patients (75% of women and 25% of men) with PD who underwent molecular genetic examination; 3) 30 healthy volunteers (66.7% of women and 33.3% of men) – a control group. The observation groups were matched for gender and age (p>0.05). The study included a retrospective analysis of medical documentation, a prospective clinical and epidemiological study, and a cohort study of genetic predictors for PD.

Results and discussion. The weighted mean prevalence of PD in Zheleznogorsk was 124.2 per 100,000 population; morbidity, 13.8 per 100,000 in 2013; mortality was minimal (0 case per 100,000 in 2010 and 2012 and 1.1 case in 2012 and 2013. The genetic markers rs1427263, rs11176013, and rs11564148 of the LRRK2 6055G>T mutation linked to the PARK8 locus on chromosome 12q12 were unassociated with the development of PD among the dwellers of Zheleznogorsk. The frequency of the genetic marker rs7966550 (the homozygous genotype C/C) in the group of PD patients was higher than in that of healthy volunteers (44.5% vs 16.5%). No specific features were found in the pattern and clinical presentations of PD with regard to single-nucleotide polymorphism markers.

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