Loss of AFG3L2 function is associated with autosomal recessive spastic ataxia 5 (SPAX5) and autosomal dominant spinocerebellar ataxia 28 (SCA28) with myopathy and CPEO (di Bella et al., 2010; Tulli et al., 2019). Here, AFG3L2 is linked to Early-onset spastic ataxia-neuropathy syndrome.