Both expanded (>200 repeats) CTG repeats at the 3’ UTR of ATXN8OS were found to be maternally inherited/derived (Table 2); there was no clinical or family history of typical neuromuscular features of the associated spinocerebellar ataxia type 8 (SCA8) disorder43. This evidence concerns the gene ATXN8OS and spinocerebellar ataxia type 8.