Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. - Elsayed, Solaf M; Heller, Raoul; Thoenes, Michaela; Zaki, Maha S; Swan, Daniel; Elsobky, Ezzat; Zühlke, Christine; Ebermann, Inga; Nürnberg, Gudrun; Nürnberg, Peter; Bolz, Hanno J (European Journal of Human Genetics, 2014)