To date, five heterozygous mutations (c.504G>C, p.L168F; c.736T>G, p.W246G; c.512T>C, p.I171T; c.539A>C, p.Q180P; c.698C>T, p.T233M in ELOVL4) causing SCA34 have been reported. The gene discussed is ELOVL4; the disease is spinocerebellar ataxia type 34.