Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

摘要

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive neurodegenerative disorders. Nibbeling et al. report five novel SCA genes identified via exome sequencing, functional validation, and network analysis in genetically undiagnosed families. Alterations in synaptic transmission and transcription regulation underlie diverse SCA types.