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Spinocerebellar ataxia type 27B (ATX-FGF14-GAA)
E. P. Nuzhnyi,
K. V. Nevzorova,
A. R. Protsenko,
N. Yu. Abramycheva,
A. A. Liaskovik,
A. I. Belyakova-Bodina,
S. N. Illarioshkin https://doi.org/10.30629/2658-7947-2025-30-4-32-37
Abstract
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.
About the Authors
E. P. Nuzhnyi
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
K. V. Nevzorova
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
A. R. Protsenko
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
N. Yu. Abramycheva
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
A. A. Liaskovik
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
A. I. Belyakova-Bodina
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
S. N. Illarioshkin
Russian Center of Neurology and Neurosciences
Russian Federation
Russian Federation
Moscow, Russia
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Review
For citations:
Nuzhnyi E.P., Nevzorova K.V., Protsenko A.R., Abramycheva N.Yu., Liaskovik A.A., Belyakova-Bodina A.I., Illarioshkin S.N. Spinocerebellar ataxia type 27B (ATX-FGF14-GAA). Russian neurological journal. 2025;30(4):32-37. (In Russ.) https://doi.org/10.30629/2658-7947-2025-30-4-32-37
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