Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy.

Shihan ChenCatherine AshtonRawan SakallaGuillemette ClementSophie PlanelCéline BonnetPhillipa LamontKulanthaivelu KarthikAtchayaram NaliniHenry Houlden Antoine DuquetteMarie-Josée DicairePablo Iruzubieta AgudoJavier Ruiz MartinezEnrique Marco de LucasRodrigo Sutil BerjonJon Infante CeberioElisabetta IndelicatoSylvia BoeschMatthis SynofzikBenjamin BenderMatt C DanziStephan ZuchnerDavid PellerinBernard BraisMathilde RenaudRoberta La Piana

Published in: medRxiv : the preprint server for health sciences (2024)

ataxia. The frequent SCP involvement observed in different cohorts may facilitate the diagnosis. The predominant involvement of lobule X correlates with the frequently observed downbeat nystagmus.

Keyphrases

early onset