Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press65310.17650/2222-8721-2025-15-3-64-71LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫReview ArticleDiversity of clinical manifestations of diseases associated with the RFC1 geneРазнообразие клинических проявлений заболеваний, ассоциированных с геном RFC1https://orcid.org/0000-0003-3179-7668NuzhnyyEvgeniy P.НужныйЕвгений Петрович
Russian Federation
enuzhny@mail.ruhttps://orcid.org/0009-0007-5009-8607ZemlyanayaD. O.ЗемлянаяД. О.
Russian Federation
enuzhny@mail.ruhttps://orcid.org/0000-0002-2704-6282IllarioshkinS. N.ИллариошкинС. Н.
Russian Federation
enuzhny@mail.ruRussian Сenter of Neurology and NeurosciencesФГБНУ «Российский центр неврологии и нейронаук»24122025153647104082025Copyright ©; 2025, Nuzhnyy E.P., Zemlyanaya D.O., Illarioshkin S.N.Copyright ©; 2025, Нужный Е.П., Земляная Д.О., Иллариошкин С.Н.2025Nuzhnyy E.P., Zemlyanaya D.O., Illarioshkin S.N.Нужный Е.П., Земляная Д.О., Иллариошкин С.Н.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/653

Biallelic pentanucleotide AAGGG expansion in the RFC1 gene is the molecular basis of сerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), one of the most common causes of late-onset ataxias. The phenotypic spectrum of RFC1-associated pathology has significantly expanded in recent years: it includes motor neuron disease, parkinsonism, cognitive impairment, and isolated manifestations of CANVAS symptoms (polyneuropathy, bilateral vestibulopathy, and chronic cough). This review summarizes current information on the phenotypic diversity of RFC1-associated diseases, which changes the understanding of diagnostic tactics and differential diagnostic algorithms for CANVAS and a number of other forms of neurodegenerative pathology.

Биаллельная пентануклеотидная экспансия AAGGG-повторов в гене RFC1 является молекулярно-генетической основой синдрома мозжечковой атаксии, невропатии и вестибулярной арефлексии (cerebellar ataxia, neuropathy, vestibular areflexia syndrome, CANVAS) – одной из самых распространенных причин атаксий с дебютом во взрослом возрасте. В последние годы фенотипический спектр RFC1-ассоциированных патологий значительно расширился и включает поражение мотонейронов, паркинсонизм, когнитивные нарушения, а также изолированные проявления компонентов синдрома CANVAS (полиневропатия, двусторонняя вестибулопатия, хронический кашель). В данном обзоре обобщены актуальные сведения о фенотипическом разнообразии RFC1-ассоциированных заболеваний, которые меняют представления о диагностической тактике и дифференциально-диагностических алгоритмах при CANVAS и ряде других форм нейродегенеративной патологии.

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