Heterozygous mutations in <i>ELOVL4</i> gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. The gene discussed is ELOVL4; the disease is spinocerebellar ataxia type 34.