Mutations in ELOVL4 cause three distinct neurodegenerative diseases that depend on the specific mutation and its pattern of inheritance: Stargardt-like macular dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34) with or without erythrokeratodermia variabilis (EKV), and a severe neuro-ichthyotic syndrome. Here, ELOVL4 is linked to erythrokeratodermia variabilis.