neurojourНеврологический журнал имени Л.О. БадалянаL.O. Badalyan Neurological Journal2686-89972712-794XФГАУ «НМИЦ здоровья детей» Минздрава России10.46563/2686-8997-2021-2-1-7-9neurojour-32Research ArticleИНФОРМАЦИОННЫЕ МАТЕРИАЛЫINFORMATIONAL MATERIALSКонсенсус в отношении генозаместительной терапии для лечения спинальной мышечной атрофииConsensus on gene replacement therapy for spinal muscular atrophyАртемьеваС. Б.ArtemyevaS. B.noemail@neicon.ruБелоусоваЕ. Д.BelousovaE. D.noemail@neicon.ruВлодавецД. В.VlodavetsD. V.noemail@neicon.ruГузеваВ. И.GuzevaV. I.noemail@neicon.ruКузенковаЛ. М.KuzenkovaL. M.noemail@neicon.ruКуцевС. И.KutsevS. I.noemail@neicon.ruМарахоновА. В.MarakhonovA. V.noemail@neicon.ruПечатниковаН. Л.PechatnikovaN. L.noemail@neicon.ruПоляковА. В.PolyakovA. V.noemail@neicon.ruНаучно-исследовательский клинический институт педиатрии им. Ю.Е. ВельтищеваРоссияThe Yu.E. Veltischev Research Clinical Institute of PediatricsRussian FederationНаучно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева; РНИМУ имени Н.И. ПироговаРоссияThe Yu.E. Veltischeva Research Clinical Institute of Pediatrics; The Pediatric Faculty of the N.I. Pirogov Russian National Research UniversityRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияThe St. Petersburg State Pediatric Medical UniversityRussian FederationЦентр детской психоневрологии; Национальный медицинский исследовательский центр здоровья детейРоссияThe Center for Child Psychoneurology; The National Medical Research Center for Children’s HealthRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияThe Academician N.P. Bochkov Medico-Genetic Research CenterRussian FederationГородской центр орфанных и других редких заболеваний у детей и подростков; Морозовская детская клиническая больницаРоссияThe Municipal Center for Orphan and Other Rare Diseases in Children and Adolescents; The Morozov Children’s Clinical HospitalRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияThe Academician N.P. Bochkov Medical and Genetic Research CenterRussian Federation2021010420212179Copyright © Артемьева С.Б., Белоусова Е.Д., Влодавец Д.В., Гузева В.И., Кузенкова Л.М., Куцев С.И., Марахонов А.В., Печатникова Н.Л., Поляков А.В., 20212021Артемьева С.Б., Белоусова Е.Д., Влодавец Д.В., Гузева В.И., Кузенкова Л.М., Куцев С.И., Марахонов А.В., Печатникова Н.Л., Поляков А.В.Artemyeva S.B., Belousova E.D., Vlodavets D.V., Guzeva V.I., Kuzenkova L.M., Kutsev S.I., Marakhonov A.V., Pechatnikova N.L., Polyakov A.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.neuro-journal.ru/jour/article/view/32

Проксимальная спинальная мышечная атрофия (СМА), обусловленная мутациями в гене SMN1 (survival motoneuron — выживаемость мотонейронов), локализованном на длинном плече 5 хромосомы (5q), — тяжёлое инвалидизирующее нервно-мышечное заболевание с аутосомно-рецессивным типом наследования. Генетическая причина СМА — гомозиготные делеции или потеря функции в результате мутации в гене SMN1 [1]. Высокогомологичный резервный ген SMN2 обеспечивает производство только 10% полноценного белка SMN. Доказано, что большее количество копий гена SMN2 связано с более лёгкими фенотипами [2]. Распространённость проксимальной СМА составляет 1 случай на 6000–10 000 новорождённых [3]. 

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