ELOVL4 mutations cause autosomal dominant spinocerebellar ataxia (type 34; SCA34), erythrokeratodermia variabilis (EKV) (Cadieux-Dion et al., 2014; Bourassa et al., 2015; Ozaki et al., 2015) and autosomal dominant Stargardt-like macular dystrophy (STGD3) (Bernstein et al., 2001; Edwards et al., 2001; Zhang et al., 2001). The gene discussed is ELOVL4; the disease is erythrokeratodermia variabilis.