r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2024-29-1-19-24r-n-j-519Research ArticleОБЗОРЫREVIEWSАTP1A3-альтернирующая гемиплегияATP1A3-alternating hemiplegiaАфанасьеваМ. П.AfanasyevaM. P.

 Москва

Moscow

afanaseva@pedklin.ruБелоусоваЕ. Д.BelousovaE. D.

 Москва

Moscow

ebelousova@pedklin.ruШарковА. А.SharkovA. A.

 Москва

Moscow

A.sharkov@pedklin.ruНаучно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева Российского национального исследовательского медицинского университета имени Н.И. ПироговаРоссияClinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev of the Russian National Research Medical University named after N.I. PirogovRussian Federation2024110320242911924Copyright © Афанасьева М.П., Белоусова Е.Д., Шарков А.А., 20242024Афанасьева М.П., Белоусова Е.Д., Шарков А.А.Afanasyeva M.P., Belousova E.D., Sharkov A.A.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/519

Альтернирующая гемиплегия (АГ) является редким и малоизученным заболеванием. АГ характеризуется ранними эпизодами гемиплегии (продолжительностью от нескольких минут до нескольких дней), нарушением двигательного, интеллектуального развития и возможным возникновением неврологического дефицита. Изучение генетической основы заболевания привело к открытию мутаций в гене ATP1A3, кодирующем альфа-3-субъединицу Na+/K+-АТФазы. Важнейшими прогностическими сведениями для исследования АГ представляются генетические данные. Представлены данные по дифференциальной диагностике и лечению заболевания. Диагностику заболевания затрудняют схожесть отдельных проявлений с эпилепсией, а также отсутствие отклонений при нейровизуализации. Настоящая статья представляет собой попытку обобщить мировой научно-практический опыт и определить актуальные направления исследований АГ.

Alternating hemiplegia (AH) is a rare and little researched disease. AH is characterized with early episodes of hemiplegia (from a few minutes to a few days), abnormal movements and cognition, and probable development of neurological defi ciency. Studies of genetic basis have led to discovery of mutations in gen ATP1A3, which codes alfa-3 subunit of Na+/K+-ATPase. For research, genetic data are considered most important prognostic information. Its diagnostics is diffi cult due to similarity of some symptoms to epilepsy and absence of deviations at neuro-visualisation. This article is an attempt to generalize world scientifi c experience and to determine most important research derections.

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