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Clinical features of GAA-FGF14-positive patients

Frequency of individual phenotypic features in 17 GAA-FGF14-positive patients. Numbers in brackets indicate the number of affected patients over the total number of patients assessed for this feature. FGF14, fibroblast growth factor 14 gene. (Source: Pellerin D, Wilke C, Traschütz A, et al. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. J Neurol Neurosurg Psychiatry 2024;95[2]:175-179. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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Associated Disorders

  • Insidious symmetric bilateral vestibulopathy
  • Sequential unilateral vestibulopathy