Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Pablo IruzubietaDavid PellerinAlberto BergarecheInés AlbajarElisabet MondragónAna VinagreRoberto Fernández-TorrónFermín MorenoJon Equiza David Campo-CaballeroJuan José PozaMarta RuibalAlessandro FormicaMarie-Josée DicaireMatt C DanziStephan ZuchnerIoana CroitoruMontserrat RuizAgatha SchlüterCarlos CasasnovasAurora PujolBernard BraisHenry HouldenAdolfo López de MunainJavier Ruiz-Martínez

Published in: European journal of neurology (2023)

We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first-tier genetic test in patients with LOCA.

Keyphrases

late onset
early onset
genome wide
copy number
dna methylation
gene expression