A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Arianna ManiniTommaso BocciAlice MigazziEdoardo MonfriniDario RonchiGiulia FrancoAnna De RosaFerdinando SartucciAlberto PrioriStefania CortiGiacomo Pietro ComiNereo BresolinManuela BassoAlessio di Fonzo

Published in: BMC neurology (2020)

This finding extends SCA35 genetic landscape, highlighting the importance of TGM6 screening in undiagnosed late-onset and slowly progressive cerebellar ataxias.

Keyphrases

late onset
early onset
multiple sclerosis
genome wide
single cell
copy number
dna methylation
gene expression