ELOVL4 and erythrokeratodermia variabilis: An ELOVL4 variant [c.540G > C (p. L168F)] reported in a large French-Canadian family in 2014 was the first heterozygous ELOVL4 variant shown to cause SCA34 pathology with or without Erythrokeratodermia Variabilis (EKV) [13].