r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2025-30-4-32-37r-n-j-727Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSСпиноцеребеллярная атаксия типа 27В (ATX-FGF14-GAA)Spinocerebellar ataxia type 27B (ATX-FGF14-GAA)https://orcid.org/0000-0003-3179-7668НужныйЕ. П.NuzhnyiE. P.

Москва, Россия

Moscow, Russia

enuzhny@mail.ruhttps://orcid.org/0009-0000-9148-0203НевзороваК. В.NevzorovaK. V.

Москва, Россия

Moscow, Russia

https://orcid.org/0009-0000-5290-5045ПроценкоА. Р.ProtsenkoA. R.

Москва, Россия

Moscow, Russia

https://orcid.org/0000-0001-9419-1159АбрамычеваН. Ю.AbramychevaN. Yu.

Москва, Россия

Moscow, Russia

https://orcid.org/0000-0001-8062-0784ЛясковикА. А.LiaskovikA. A.

Москва, Россия

Moscow, Russia

https://orcid.org/0000-0002-2339-8483Белякова-БодинаА. И.Belyakova-BodinaA. I.

Москва, Россия

Moscow, Russia

https://orcid.org/0000-0002-2704-6282ИллариошкинС. Н.IllarioshkinS. N.

Москва, Россия

Moscow, Russia

Российский центр неврологии и нейронаукРоссияRussian Center of Neurology and NeurosciencesRussian Federation2025041020253043237Copyright © Нужный Е.П., Невзорова К.В., Проценко А.Р., Абрамычева Н.Ю., Лясковик А.А., Белякова-Бодина А.И., Иллариошкин С.Н., 20252025Нужный Е.П., Невзорова К.В., Проценко А.Р., Абрамычева Н.Ю., Лясковик А.А., Белякова-Бодина А.И., Иллариошкин С.Н.Nuzhnyi E.P., Nevzorova K.V., Protsenko A.R., Abramycheva N.Y., Liaskovik A.A., Belyakova-Bodina A.I., 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/727

Спиноцеребеллярная атаксия типа 27В (СЦА27В) — новая форма наследственных атаксий, открытая в 2023 г.; заболевание связано с носительством патологической экспансии GAA-повторов в гене FGF14. Согласно современным исследованиям, данный тип атаксии является одним из наиболее частых у пациентов с началом во взрослом возрасте, особенно среди неверифицированных случаев. В статье приводится клиническое наблюдение пациентки с СЦА27В с дебютом заболевания в 64 года, рецидивирующей дизартрией, бьющим вниз нистагмом и нормальной нейровизуализационной картиной. На примере данного случая подробно описан широкий спектр современных методов диагностики (видеоокулография, видеопроба Хальмаги, МР-спектроскопия мозжечка, ДНК-диагностика), применяющихся при обследовании пациентов с неясным генезом прогрессирующей мозжечковой атаксии. Обсуждаются трудности дифференциальной диагностики СЦА27В с приобретенными, в том числе глютеновой, атаксиями.

Spinocerebellar ataxia type 27B (SCA27B) is a newly identifi ed hereditary ataxia discovered in 2023, characterized by pathological GAA repeat expansions in the FGF14 gene. Current research indicates it as one of the most prevalent forms of adult-onset ataxia, particularly among previously undiagnosed cases. We describe a 64-year-old female patient with SCA27B exhibiting: recurrent dysarthria, downbeat nystagmus and unremarkable neuroimaging fi ndings. This case illustrates a comprehensive diagnostic approach for progressive cerebellar ataxia of unclear etiology (videooculography, Halmagyi video head impulse test, cerebellar MRspectroscopy and genetic testing). We discussed diffi culties of diff erential diagnosis of SCA27B with acquired (including gluten) ataxia.

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