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 et al.
✦ AI-curated · Sources linked
Case in brief
An Argentinean patient with late-onset ataxia was initially diagnosed with alcoholic cerebellar degeneration. Genetic testing identified an FGF14 GAA repeat expansion, confirming spinocerebellar ataxia 27B (SCA27B). The report describes the diagnosis as a treatable disorder and emphasizes that genetic testing helped establish the cause of the patient’s ataxia.
What made this case unusual
The case documents a genetically confirmed SCA27B diagnosis in an Argentinean patient and illustrates how the condition may be mistaken for alcoholic cerebellar degeneration.
Diagnostic / clinical pearl
In late-onset ataxia, consider FGF14 GAA repeat expansion testing when the clinical picture is not adequately explained by an initial diagnosis.