r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2022-27-2-5-13r-n-j-292Research ArticleОБЗОРЫREVIEWSНовые формы деменции при нейродегенеративных заболеваниях: молекулярные основы, феноменология и возможности диагностикиNew forms of dementia in neurodegenerative diseases: molecular basis, phenomenology, and diagnostic capabilityhttps://orcid.org/0000-0001-7214-583XШпилюковаЮ. А.ShpilyukovaYu. A.

Шпилюкова Юлия Александровна – канд. мед. наук, врач-невролог, младший научный сотрудник 5-го неврологического отделения

Москва, Волоколамское шоссе, 80

Yulia A. Shpilyukova – PhD (Med.), neurologist, junior researcher, 5th Neurology Department (Nerogenetics)

Moscow

jshpilyukova@gmail.comhttps://orcid.org/0000-0001-8070-7644ФедотоваЕ. Ю.FedotovaE. Yu.

Москва

Moscow

ekfedotova@gmail.comhttps://orcid.org/0000-0003-0386-0076КузьминаЕ. Н.KuzminaE. N.

Москва

Moscow

eva.shokom@mail.ruhttps://orcid.org/0000-0002-2704-6282ИллариошкинС. Н.IllarioshkinS. N.

Москва

Moscow

snillario@gmail.comФГБНУ «Научный центр неврологии»РоссияResearch Center of NeurologyRussian Federation202213052022272513Copyright © Шпилюкова Ю.А., Федотова Е.Ю., Кузьмина Е.Н., Иллариошкин С.Н., 20222022Шпилюкова Ю.А., Федотова Е.Ю., Кузьмина Е.Н., Иллариошкин С.Н.Shpilyukova Y.A., Fedotova E.Y., Kuzmina E.N., Illarioshkin S.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/292

В свете развития молекулярной биологии и патоморфологии постепенно меняются представления о первично дегенеративных заболеваниях нервной системы. Ярким свидетельством этого является описание в последние годы новых форм нейродегенеративной патологии, проявляющейся когнитивным снижением и развитием деменции. К ним относятся энцефалопатия позднего возраста с белком TDP-43 и преимущественным поражением лимбических структур (Limbic-Predominant Age-Related TDP-43 Encephalopathy, LATE); деменция, ассоциированная с одновременным накоплением четырех белков с нарушенной пространственной структурой (dementia associated with Quadruple Misfolded Proteins, QMP), болезнь с нейрональными внутриядерными включениями (Neuronal Intranuclear Inclusion Disease, NIID). Их появление в обширном ряду нейродегенеративных заболеваний, охарактеризованных на молекулярном и фенотипическом уровне, ставит ряд вопросов – от внедрения в русскоязычную научную литературу новых сложных терминов до формирования у специалистов новых знаний для выявления указанных состояний на практике. В обзоре подробно рассматриваются спектр клинических проявлений и генетические характеристики новых форм нейродегенеративной деменции, а также современные возможности их диагностики.

In the light of the development of molecular biology and pathomorphology, ideas about degenerative diseases of the nervous system are gradually changing. A clear evidence of this is the description in recent years of new forms of neurodegenerative pathology, manifested by cognitive decline and dementia. These forms include Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE); dementia associated with Quadruple Misfolded Proteins (QMP), Neuronal Intranuclear Inclusion Disease (NIID). Their appearance in a wide range of neurodegenerative diseases, characterized at the molecular and phenotypic level, raises several questions — from the introduction of new complex terms into the Russian-language scientific literature to the formation of new knowledge among specialists to identify these conditions in practice. The review examines in detail the spectrum of clinical manifestations and genetic characteristics of new forms of neurodegenerative dementia, as well as modern possibilities of their diagnosis.

деменцияэнцефалопатия позднего возраста с белком TDP-43 и поражением лимбических структурдеменция с накоплением четырех белков с нарушенной пространственной структуройболезнь с нейрональными внутриядерными включениямидиагностикаprimary dementiaLimbic-Predominant Age-Related TDP-43 Encephalopathy (LATE)dementia associated with Quadruple Misfolded Proteins (QMP)Neuronal Intranuclear Inclusion Disease (NIID)diagnosticsРабота выполнена при финансовой поддержке Российского фонда фундаментальных исследований (грант № 19-015-00533). Работа выполнена с использованием оборудования ЦКП «Структурно-функциональное картирование мозга».The work was carried out with the financial support of the Russian Foundation for Basic Research (grant № 19-015-00533). The work was carried out using the equipment of the CCP «Structural and functional mapping of the brain».ReferencesЯхно Н.Н., Захаров В.В., Локшина А.Б., Коберская Н.Н., Мхитарян Э.А. Деменции. Руководство для врачей. 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The authors declare that there are no conflicts of interest present.