The expression changes observed for the nesprin 1 giant isoform could be contributory not only to the NE deformations but also to the disease phenotype, consistent with reported NE aberrations from nesprin 1 mutations linked to EDMD (Zhang et al., 2007) and spinocerebellar ataxia (Gros-Louis et al., 2007). Here, SYNE1 is linked to cerebellar ataxia.