Preview

Neurology, Neuropsychiatry, Psychosomatics

Advanced search

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

https://doi.org/10.14412/2074-2711-2014-4-59-64

Full Text:

Abstract

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.

About the Authors

M. R. Sapronova
Professor V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia, Krasnoyarsk, Russia 1, Partisan Zheleznyak St., Krasnoyarsk 660022 Clinical Hospital Fifty-One, Federal Biomedical Agency of Russia, Zheleznogorsk, Russia 5, Kirov St., Zheleznogorsk, Krasnoyarsk Territory 662970
Russian Federation


N. A. Shnaider
Professor V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of Russia, Krasnoyarsk, Russia 1, Partisan Zheleznyak St., Krasnoyarsk 660022 Clinical Hospital Fifty-One, Federal Biomedical Agency of Russia, Zheleznogorsk, Russia 5, Kirov St., Zheleznogorsk, Krasnoyarsk Territory 662970
Russian Federation


References

1. Яхно НН. Болезнь Паркинсона – достижения и новые вопросы. Руководство для врачей (по материалам II Национального конгресса по болезни Паркинсона и расстройствам движений). Москва; 2008. С. 7–8. [Yakhno NN. Bolezn' Parkinsona – dostizheniya i novye voprosy. Rukovodstvo dlya vrachei (po materialam II Natsional'nogo kongressa po bolezni Parkinsona i rasstroistvam dvizhenii) [Parkinson's disease – achievements and new questions. The management for doctors (on materials II of the National congress due to Parkinson's disease and to disorders of the movements)]. Moscow; 2008. P. 7–8.]

2. Kalender-Rich JL, Mahnken JD, Dong L, et al. Development of an ambulatory geriatrics knowledge examination for internal medicine residents. J Grad Med Educ. 2013;5(4):678–80. DOI: http://dx.doi.org/10.4300/JGME-D-13-00123.1.

3. Захарова ИА. Компенсаторный потенциал при нормальном и патологическом старении. Системная психология и социология. 2013;7:65–74. [Zakharova IA. Compensatory potential in normal and pathological aging. Sistemnaya psikhologiya i sotsiologiya. 2013;7:65–74. (In Russ.)]

4. Dorsey ER, Constantinescu R, Thompson JP, et al. Projected number of people with Parkinson disease in the most populous nations 2005 through 2030. Neurology. 2007;68(5):384–6. DOI: http://dx.doi.org/10.1212/01.wnl. 0000247740.47667.03.

5. Труфанов ЕА, Головченко ЮИ, Слободин ТН и др. Эпидемиология болезни Паркинсона в Украине. Международный неврологический журнал. 2012;7(53):42–6. [Trufanov EA, Golovchenko YuI, Slobodin TN, et al. Epidemiology of Parkinson’s disease in Ukraine. Mezhdunarodnyi nevrologicheskii zhurnal. 2012;7(53):42–6. (In Russ.)]

6. Johnson SJ, Kaltenboeck A, Diener M, et al. Costs of Parkinson's disease in a privately insured population. Pharmacoeconomics. 2013;31(9):799–806. DOI: http://dx.doi.org/10.1007/s40273-013-0075-0.

7. Ковальчук АЮ, Быканова МА, Пизова НВ и др. Клинико-эпидемиологические аспекты болезни Паркинсона. Журнал неврологии и психиатрии им. C.C. Корсакова. 2011;111(12):74–6. [Koval'chuk AYu, Bykanova MA, Pizova NV, et al. Clinical and epidemiological aspects of Parkinson's disease. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2011;111(12):74–6. (In Russ.)]

8. Chung CY, Khurana V, Auluck PK, et al. Identification and rescue of b-synuclein toxicity in Parkinson patient-derived neurons. Science. 2013;342(6161):983–7. DOI: http://dx.doi.org/10.1126/science.1245296.

9. Левин ОС, Федорова НВ. Болезнь Паркинсона. Москва: Медпресс 2012. 315 с. [Levin OS, Fedorova NV. Bolezn' Parkinsona [Parkinson's disease]. Moscow: Medpress; 2012. 315 p.]

10. Bernal-Pacheco O, Limotai N, Go CL, et al. Nonmotor manifestations in Parkinson disease. Neurologist. 2012;18(1):1–16. DOI: http://dx.doi.org/10.1097/NRL.0b013 e31823d7abb.

11. Багыева ГХ, Иллариошкин СН, Сломинский ПА и др. Сочетание мутаций в локусах PARK2 и PARK8 у пациентов с ранней формой болезни Паркинсона. Неврологический журнал. 2007;12(2):15–8. [Bagyeva GKh, Illarioshkin SN, Slominskii PA, et al. The combination of mutations at the loci PARK2 and PARK8 in a female patient with early-onset form of Parkinson's disease. Nevrologicheskii zhurnal. 2007;12(2):15–8. (In Russ.)]

12. Fujishiro H, Imamura AY, Lin WL, et al. Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations. Am J Neurodegener Dis. 2013;2(4):266–75.

13. Путенихина ВП, Хидиятова ИМ, Ахмадеева ГН и др. Репликация данных полногеномных анализов ассоциации с болезнью Паркинсона в республике Башкортостан. Вестник Челябинского государственного университета. 2013;7:42–3. [Putenikhina VP, Khidiyatova IM, Akhmadeeva GN, et al.

14. Replication of these full-genomic analyses of association with Parkinson's disease in the Republic of Bashkortostan. Vestnik Chelyabinskogo gosudarstvennogo universiteta. 2013;7:42–3. (In Russ.)]

15. Hindle SJ, Elliott CJ. Spread of neuronal degeneration in a dopaminergic, LRRKG2019S model of Parkinson disease. Autophagy. 2013;9(6):936–8. DOI: http://dx.doi.org/10.4161/auto.24397.

16. Левин ОС. Как лечили болезнь Паркинсона в 2013 году. Современная терапия в психиатрии и неврологии. 2013;3–4:5–16. [Levin OS. As treated Parkinson’s disease in 2013. Sovremennaya terapiya v psikhiatrii i nevrologii. 2013;3–4:5–16. (In Russ.)]

17. Liao XX, Zhan ZX, Luo YY, et al. Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population. BMC Neurol. 2013;11:196–9. DOI: http://dx.doi.org/10.1186/1471-2377-13-196.

18. Сапронова МР, Шнайдер НА, Похабов ДВ. Гендерная характеристика болезни Паркинсона в ЗАТО г. Железногорск. Проблемы женского здоровья. 2013;8(2):46–52. [Sapronova MR, Shnaider NA, Pokhabov DV. Gender characteristics of Parkinson's disease closed administrative territorial associations Zheleznogorsk. Problemy zhenskogo zdorov'ya. 2013;8(2):46–51. (In Russ.)]

19. Сапронова МР, Касперович НА, Волков СН и др. Проспективное эпидемиологическое исследование болезни Паркинсона в ЗАТО г. Железногорск. Вестник Клинической больницы № 51. 2013;(4):45–50. [Sapronova MR, Kasperovich NA, Volkov SN, et al. Prospeсtiv epidemiological research of Parkinson’s desease in BUT Zheleznogorsk. Zheleznogorsk. Vestnik Klinicheskoi bol'nitsy № 51. 2013;(4):45–50. (In Russ.)]

20. Сапронова МР, Шнайдер НА, Ломакин АИ и др. Анализ показателей смертности от болезни Паркинсона на территории закрытого административно-тер риториального образования Железногорск. Репринт. Главврач. 2014;9:6–11. [Sapronova MR, Shnaider NA, Lomakin AI, et al. The analysis of indicators of mortality from Parkinson's illness in the territory of the closed administrative-territorial education Zheleznogorsk. Reprint. Glavvrach. 2014;9:6–11. (In Russ.)]

21. Сапронова МР, Шнайдер НА, Похабов ДВ и др. Социально-демографическая характеристика болезни Паркинсона на территории закрытого административного территориального образования Железногорск. Вестник Новосибирского государственного университета. Серия: Биология, клиническая медицина. 2013;11(3):161–7. [Sapronova MR, Shnaider NA, Pokhabov DV, et al. Socio-demographic characteristics of Parkinson's disease in the closed independent territorial formation. Vestnik Novosibirskogo gosudarstvennogo universiteta. Seriya: Biologiya, klinicheskaya meditsina. 2013;11(3):161–7. (In Russ.)]

22. Сапронова МР, Шнайдер НА, Муравьева АВ и др. Исследование частоты встречаемости полиморфных аллельных вариантов гена LRRK2 (PARK8) у пациентов с болезнью Паркинсона. Вестник Новосибирского государственного университета. Серия: Биология, клиническая медицина. 2014;12(1):19–25. [Sapronova MR, Shnaider NA, Murav'eva AV, et al. Frequency study of polymorphic allelic variants of LRRK2 gene (PARK8) in patients with Parkinson`s disease. Vestnik Novosibirskogo gosudarstvennogo universiteta. Seriya: Biologiya, klinicheskaya meditsina. 2014;12(1):19–25. (In Russ.)]


For citation:


Sapronova M.R., Shnaider N.A. The epidemiological, clinical, and genetic characteristics of Parkinson’s disease (in case of Zheleznogorsk). Neurology, Neuropsychiatry, Psychosomatics. 2014;6(4):59-64. (In Russ.) https://doi.org/10.14412/2074-2711-2014-4-59-64

Views: 981


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)