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Frequency of the FGF14 GAA repeat expansion

Percentage of patients who carried an FGF14 (GAA) 250 or greater repeat expansion in the subgroups with (1) cerebellar ataxia plus polyneuropathy (CA+PN) (5 of 13 patients), (2) cerebellar ataxia plus bilateral vestibulopathy (CA+BVP) (9 of 21), and (3) cerebellar ataxia plus polyneuropathy and bilateral vestibulopathy (CA+PN+ BVP) (3 of 11). (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