therapeuticЮжно-Российский журнал терапевтической практикиSouth Russian Journal of Therapeutic Practice2712-8156РостГМУ10.21886/2712-8156-2025-6-1-88-94therapeutic-582Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESСемейный случай спиноцеребеллярной атаксии I типа. Клинико-диагностические параллелиA familial case of spinocerebellar attack type I. Clinical and diagnostic parallelshttps://orcid.org/0000-0003-4246-2097Фомина-ЧертоусоваН. А.Fomina-ChertousovaN. A.

Неонила Анатольевна Фомина-Чертоусова, к. м. н., доцент

кафедра нервных болезней и нейрохирургии

Ростов-на-Дону

Neonila A. Fomina-Chertousova, Cand. Sci. (Med.), Associate Professor

Department of Nervous Diseases and Neurosurgery

Rostov-on-Don

neo1966@yandex.ruhttps://orcid.org/0009-0005-3285-4320ПивачеваЕ. С.PivachevaE. S.

Елена Сергеевна Пивачева, ординатор 2-го года обучения

кафедра нервных болезней и нейрохирургии

Ростов-на-Дону

Elena S. Pivacheva, 2nd year resident

Department of Nervous Diseases and Neurosurgery

Rostov-on-Don

lenapivacheva@mail.ruhttps://orcid.org/0009-0009-4402-1157ДомрачеваА. М.DomrachevaA. M.

Анастасия Михайловна Домрачева, врач-невролог

неврологическое отделение № 1

Ростов-на-Дону

Anastasia M. Domracheva, neurologist

neurological department No. 1

Rostov-on-Don

nastyacat8@gmail.comhttps://orcid.org/0000-0002-3941-5540СозаеваД. И.SozaevaD. I.

Диана Измаиловна Созаева, д. м. н., доцент

кафедра неврологии, восстановительной медицины и остеопатии

Ростов-на-Дону

Diana I. Sozaeva, Dr. Sci. (Med.), Associate Professor

Department of Neurology, Rehabilitation Medicine and Osteopathy

Rostov-on-Don

D.Sozaeva@rambler.ruФГБОУ ВО «Ростовский государственный медицинский университет» Минздрава РоссииРоссияRostov State Medical UniversitRussian FederationГБУ РО «Центральная городская больница им. Н.А. Семашко»РоссияCentral City Hospital n. a. N.A. SemashkoRussian Federation202504022025618894Copyright © Фомина-Чертоусова Н.А., Пивачева Е.С., Домрачева А.М., Созаева Д.И., 20252025Фомина-Чертоусова Н.А., Пивачева Е.С., Домрачева А.М., Созаева Д.И.Fomina-Chertousova N.A., Pivacheva E.S., Domracheva A.M., Sozaeva D.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.therapeutic-j.ru/jour/article/view/582

   Спиноцеребеллярная атаксия — нейродегенеративное заболевание с аутосомно-доминатным типом наследования, быстрым прогрессированием клинических проявлений с дебютом в молодом возрасте. Рассмотрен клинический случай пациентки (34 года) со спиноцеребеллярной атаксией I типа, отягощённой наследственным анамнезом и формированием феномена антиципации. Отмечено, что клинические симптомы опережают данные нейровизуализации.

   Spinocerebellar ataxia is a neurodegenerative disease with an autosomal dominant type of inheritance, rapid progression of clinical manifestations with onset at a young age. The clinical case of a 34-year-old patient with spinocerebellar ataxia type I, burdened by a hereditary history and the formation of the anticipation phenomenon, is considered. It was noted thatclinical symptoms preceded neuroimaging data.

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