Four different heterozygous mutations in the ELOVL4 gene cause autosomal dominant spinocerebellar ataxia-34 (SCA34), a late-onset degenerative disease of the cerebellum that may present with or without erythrokeratodermia variabilis (EKV; red thickened skin) (Cadieux-Dion et al., 2014; Bourassa et al., 2015; Ozaki et al., 2015; Bourque et al., 2018). This evidence concerns the gene ELOVL4 and erythrokeratodermia variabilis.