neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2020-1-3-139-158neurojour-3Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSБолезнь ГентингтонаHuntington’s diseasehttps://orcid.org/0000-0002-8752-7045КлюшниковСергей АнатольевичKlyushnikovSergey A.

Канд. мед. наук, ведущий научный сотрудник 5-го неврологического отделения ФГБНУ «Научный центр неврологии», 125367, Москва, Россия.

e-mail: sergeklyush@gmail.com

M.D., Ph.D., leading researcher of the 5th department of neurology of the Research Center of Neurology, Moscow, 125367, Russian Federation.

у-mail: sergeklyush@gmail.com

sergeklyush@gmail.comФГБНУ «Научный центр неврологии»РоссияResearch Center of NeurologyRussian Federation20202503202113139158Copyright © ФГАУ «НМИЦ здоровья детей» Минздрава России, 20212021ФГАУ «НМИЦ здоровья детей» Минздрава РоссииФГАУ «НМИЦ здоровья детей» Минздрава Россииhttps://www.neuro-journal.ru/jour/about/submissions#copyrightNoticehttps://www.neuro-journal.ru/jour/article/view/3

Болезнь Гентингтона (БГ) является одним из наиболее частых наследственных нейродегенеративных заболеваний. БГ практически инкурабельна, неизбежно приводит к инвалидизации пациентов и преждевременной смерти. Достаточно широкая распространенность в мире, особая тяжесть течения, практически полная пенетрантность мутантного гена, своеобразие клинико-генетических корреляций при БГ многие годы привлекают исследователей, специализирующихся в области нейронаук. Изучение молекулярной нейробиологии БГ в течение последних десятилетий во многом способствовало существенному прогрессу в молекулярной биологии, генетике и ряде других медико-биологических дисциплин. В то же время БГ стала «модельным» заболеванием при решении вопросов медико-генетического консультирования и прогностического тестирования в современной медицинской генетике.

В обзоре приведены краткие факты по истории изучения БГ, включая картирование и идентификацию мутантного гена. Поиск литературы проводился по базам данных Scopus, Web of Science, Pubmed (MedLine), eLibrary. Подробно освещены вопросы этиологии и патогенеза, молекулярной генетики заболевания, эпидемиологии, диагностики и дифференциальной диагностики БГ. Представлены спектр клинических проявлений БГ, ее различные формы, особенности течения. Освещена проблема разработки валидных биомаркеров как манифестной, так и пресимптомной стадий заболевания, а также течения патологического процесса. Кратко изложены основные вопросы первичной и вторичной профилактики БГ, биоэтические принципы проведения медико-генетического консультирования семей, отягощенных данным заболеванием. Изложены подходы к симптоматическому лечению БГ, приведен обзор основных перспективных экспериментальных терапевтических методов, потенциально способных замедлить либо остановить прогрессирование заболевания, а также предупредить его манифестацию у асимптомных носителей мутантного гена. Отмечен важный вклад пациентских организаций в решение вопросов, затрагивающих интересы отягощенных семей, проведение научных и клинических исследований по проблеме БГ.

Huntington’s disease is one of the most common hereditary neurodegenerative diseases, which remains practically incurable, inevitably leading to the disability of patients and premature death. A fairly wide prevalence in the world, the special severity of the course, the almost complete penetrance of the mutant gene, the peculiarity of clinical and genetic correlations in Huntington’s disease have attracted researchers specializing in neuroscience for many years. The study of the molecular neurobiology of Huntington’s disease over the past decades has largely contributed to significant progress in molecular biology, genetics, and many other biomedical disciplines. At the same time, Huntington’s disease has become a “model” disease in resolving issues of genetic counseling and prognostic testing in modern medical genetics. The review provides brief facts on the history of the study of the disease, including mapping and identification of the mutant gene. The issues of etiology and pathogenesis, molecular genetics of the disease, epidemiology, diagnostics, and differential diagnostics are discussed in detail. The spectrum of clinical manifestations of Huntington’s disease, its various forms, and course features are presented. From a modern perspective, the problem of developing valid biomarkers of both the manifest and the asymptomatic stages of the disease, as well as the course of the pathological process, are highlighted. The main issues of primary and secondary prevention of Huntington’s disease, bioethical principles of conducting genetic counseling for families burdened by this disease are outlined. The approaches to the symptomatic treatment of Huntington’s disease are described, a review of the main promising experimental therapeutic methods that can potentially slow down or stop the progression of the disease, as well as prevent its manifestation in asymptomatic carriers of the mutant gene, are presented. An important contribution of patient organizations to addressing issues affecting the interests of burdened families, scientific and clinical research on the disease was noted. Literature was searched and analyzed using the databases of Scopus, Web of Science, Pubmed (MedLine), eLibrary.

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