Heterogeneity of sporadic Parkinson’s disease: molecular approach to solving the problem
- Authors: Illarioshkin S.N.1, Slominsky P.A.2, Shadrina M.I.2, Bagyeva G.K.1, Zagorovskaya T.B.1, Markova E.D.1, Karabanov A.V.1, Poleshchuk V.V.3, Polevaya E.V.1, Fedorova N.V.4, Limborskaya S.A.5, Ivanova-Smolenskaya I.A.1
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Affiliations:
- Research Center of Neurology
- Institute of Molecular Genetics, Russian Academy of Sciences
- Research Center of Neurology,
- Russian Medical Academy of Continuing Professional Education
- Institute of Molecular Genetics
- Issue: Vol 1, No 1 (2007)
- Pages: 23-31
- Section: Original articles
- Submitted: 07.02.2017
- Published: 14.03.2007
- URL: https://www.annaly-nevrologii.com/journal/pathID/article/view/444
- DOI: https://doi.org/10.17816/psaic444
- ID: 444
Cite item
Full Text
Abstract
We performed search for mutations in the LRRK2, PRKN (parkin) and SNCA (a-synuclein) genes in 359 patients of Slavonic ethnic origin (169 men and 190 women) with Parkinson’s disease, of whom 345 represented sporadic cases. Age at the disease onset was from 23 to 84 years, and patients with juvenile parkinsonism (debut of symptoms before 20 years) were excluded from enrollment. On study of a major mutation G2019S in the gene LRRK2 as well as of structural rearrangements in the PRKN and SNCA genes it was established that in Parkinson’s disease the frequency of these mutations is 7.5% (27 patients of 359). The mutation LRRK2-G2019S was found in 1.1% of patients, parkin gene exonic rearrangements in 5.8% (including 10.7% patients with an early form of Parkinson’s disease and 1.7% patients with a late form of the disease), and SNCA gene duplication in two patients. The performed analysis showed marked heterogeneity of the molecular structure of Parkinson’s disease in Russian population, which allows to consider this disorder not to be a unified form but rathera group of separate (although similar) neurodegenerative syndromes. The identification of inherited mutations in a part of sporadic cases of Parkinson’s disease changes significantly the familial prognosis and requires genetic counseling in persons from the ‘high risk’ group.
About the authors
Sergey N. Illarioshkin
Research Center of Neurology
Author for correspondence.
Email: snillario@gmail.com
ORCID iD: 0000-0002-2704-6282
D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research
Россия, MoscowP. A. Slominsky
Institute of Molecular Genetics, Russian Academy of Sciences
Email: snillario@gmail.com
Россия, Moscow
M. I. Shadrina
Institute of Molecular Genetics, Russian Academy of Sciences
Email: snillario@gmail.com
Россия, Moscow
G. Kh. Bagyeva
Research Center of Neurology
Email: snillario@gmail.com
Россия, Moscow
T. B. Zagorovskaya
Research Center of Neurology
Email: snillario@gmail.com
Россия, Moscow
E. D. Markova
Research Center of Neurology
Email: snillario@gmail.com
Россия, Moscow
Alexey V. Karabanov
Research Center of Neurology
Email: snillario@gmail.com
ORCID iD: 0000-0002-2174-2412
Cand. Sci. (Med.), Neurologist, Research Center of Neurology
Россия, MoscowVsevolod V. Poleshchuk
Research Center of Neurology,
Email: snillario@gmail.com
Россия, Moscow
E. V. Polevaya
Research Center of Neurology
Email: snillario@gmail.com
Россия, Moscow
Natalia V. Fedorova
Russian Medical Academy of Continuing Professional Education
Email: snillario@gmail.com
ORCID iD: 0000-0003-2168-2138
D. Sci. (Med.), Professor
Россия, MoscowS. A. Limborskaya
Institute of Molecular Genetics
Email: snillario@gmail.com
Россия, Moscow
I. A. Ivanova-Smolenskaya
Research Center of Neurology
Email: snillario@gmail.com
Россия, Moscow
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