ELOVL4 and aceruloplasminemia: The ataxic phenotype associated with ELOVL4 is more complex as five point mutations have been identified, leading to three distinct clinical outcomes: one variant (p.W246G in Loop 6) causes a pure cerebellar ataxia; three variants (p.L168F in TM4, p.Q180P in Loop 4 and p.T233M TM6) cause ataxia with the skin disorder erythrokeratodermia and one variant (p.I171T in TM4) leads to ataxia, erythrokeratodermia and retinitis (Cadieux-Dion et al. 2014; Giroux and Barbeau 1972; Ozaki et al. 2015).