References

nnp

Neurology, Neuropsychiatry, Psychosomatics

Неврология, нейропсихиатрия, психосоматика

2074-27112310-1342

"IMA-Press", LLC

10.14412/2074-2711-2017-1-96-100

nnp-705

Research Article

REVIEWS

ОБЗОРЫ

The genetic basis of Parkinson's disease

Генетическая основа болезни Паркинсона

Таппахов

А. А.

Tappakhov

A. A.

677000, Якутск, ул. Белинского, 58

58, Belinsky St., Yakutsk, 677000

dralex89@mail.ru

Попова

Т. Е.

Popova

T. E.

677000, Якутск, ул. Белинского, 58

58, Belinsky St., Yakutsk, 677000

Николаева

Т. Я.

Nikolaeva

T. Ya.

677000, Якутск, ул. Белинского, 58

58, Belinsky St., Yakutsk, 677000

Гурьева

П. И.

Gurieva

P. I.

677000, Якутск, ул. Белинского, 58

58, Belinsky St., Yakutsk, 677000

Шнайдер

Н. А.

Shnaider

N. A.

660022, Красноярск, ул. Партизана Железняка, 1

1, Partisan Zheleznyak St., Krasnoyarsk 660022

Петрова

М. М.

Petrova

M. M.

660022, Красноярск, ул. Партизана Железняка, 1

1, Partisan Zheleznyak St., Krasnoyarsk 660022

Сапронова

М. Р.

Sapronova

M. R.

660022, Красноярск, ул. Партизана Железняка, 1

1, Partisan Zheleznyak St., Krasnoyarsk 660022

ФГАОУ ВО «Северо-Восточный федеральный университет им. М.К. Аммосова»РоссияM.K. Ammosov North-Eastern Federal UniversityRussian Federation

ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииРоссияProf. V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University, Ministry of Health of RussiaRussian Federation

2017

27032017

9196100

2017

Таппахов А.А., Попова Т.Е., Николаева Т.Я., Гурьева П.И., Шнайдер Н.А., Петрова М.М., Сапронова М.Р.

Tappakhov A.A., Popova T.E., Nikolaeva T.Y., Gurieva P.I., Shnaider N.A., Petrova M.M., Sapronova M.R.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

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

https://nnp.ima-press.net/nnp/article/view/705

Parkinson's disease (PD) is a multifactorial disease that develops in the presence of both genetic and environmental factors. In recent years, there has been sufficient information on the role of genetic predisposition in the development of not only familial cases, but also sporadic ones. A hereditary burden in PD may not be traced in cases of recessive inheritance with a low gene penetrance, as well as in a patient's death before the onset of the disease. Active introduction of molecular genetic methods, including next generation sequencing, can annually identify new gene mutations that underlie sporadic PD cases. This paper provides an overview of the current literature on the genetic aspects of PD with emphasis on the ethnic characteristics of the disease.

Болезнь Паркинсона (БП) является мультифакторным заболеванием, в развитии которого играют роль как генетические, так и внешние факторы. В последние годы накоплено достаточно сведений, свидетельствующих о роли генетической предрасположенности в развитии не только семейных, но и спорадических случаев заболевания. Наследственная отягощенность при БП может не прослеживаться в случаях рецессивного наследования, при низкой пенетрантности гена, а также смерти пациента до дебюта заболевания. Активное внедрение молекулярно-генетических методов исследования, включая секвенирование нового поколения, позволяет ежегодно выявлять новые генные мутации, лежащие в основе спорадических случаев БП. В настоящей статье представлен обзор современной литературы, посвященной генетическим аспектам БП, сделан акцент на этнических особенностях заболевания.

болезнь Паркинсонанейродегенеративные заболеваниянаследственностьмутацияполиморфизм

Parkinson's diseaseneurodegenerative disordershereditymutationpolymorphism

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The authors declare that there are no conflicts of interest present.