Heterozygous variants in AFG3L2 are known to cause the autosomal dominant spinocerebellar ataxia 28 (SCA28) [4], whereas, rarely, homozygous AFG3L2 variants have been associated with a complex autosomal recessive spastic ataxia syndrome (SPAX5) [5]. This evidence concerns the gene AFG3L2 and spinocerebellar ataxia type 28.