ELOVL5 and Spinocerebellar ataxia type 38: Two ELOVL5 missense mutations [(c.214C > G (p.Leu72Val) and c.689G > T (p.Gly230Val)] have been identified as the genetic cause of the Spinocerebellar Ataxia 38 (SCA38) (Di Gregorio et al., 2014).