Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
David PellerinCarlo WilkeAndreas TraschützSara NagyRiccardo CurròMarie-Josée DicaireHector Garcia-MorenoMathieu AnheimThomas WirthJennifer FaberDagmar TimmannChristel DepienneDan RujescuJosé GazullaMary M ReillyPaola GiuntiBernard BraisHenry HouldenLudger SchölsMichael StruppAndreas CorteseMatthis SynofzikPublished in: Journal of neurology, neurosurgery, and psychiatry (2023)
CANVAS and disease spectrum.