FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

E M Gatto; N Gonzalez Rojas; M E Cesarini; F G Franco; L Schottlaender; P Iruzubieta; M J Dicaire; D Pellerin; B Brais

doi:10.1016/j.parkreldis.2026.108965

PubMed · 42710251

FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

E M Gatto·N Gonzalez Rojas·M E Cesarini·F G Franco·L Schottlaender·P Iruzubieta·M J Dicaire·D Pellerin·B Brais

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Abstract

Spinocerebellar ataxia 27B (SCA27B), caused by an FGF14 GAA repeat expansion, is an emerging cause of late-onset ataxia. We report the first genetically confirmed Argentinean case, initially misdiagnosed as alcoholic cerebellar degeneration. This case highlights diagnostic challenges, phenotypic heterogeneity, and the importance of genetic testing for this treatable disorder.

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E M Gatto, N Gonzalez Rojas, M E Cesarini, F G Franco, L Schottlaender, P Iruzubieta, M J Dicaire, D Pellerin, B Brais. 2026-09-01. FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.. https://doi.org/10.1016/j.parkreldis.2026.108965

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