ATXN7 and spinocerebellar ataxia 7: Parallels can be drawn to other repeat expansion-mediated disorders, such as fragile X syndrome (FRM1) [50], spinocerebellar ataxia type 7 (ATXN7, MIM #164500) [51] and C9orf72-mediated ALS [52], whereby rare loss-of-function mutations have been proposed to induce comparable phenotypic outcomes to non-coding repeat expansions.