Autosomal recessive missense variants in Ubiquitin C-terminal hydrolase L1 (UCHL1) are a recognised cause of autosomal recessive spastic paraplegia type 79 (SPG79) which is characterised by early onset cerebellar ataxia, spastic paraplegia and optic atrophy [27–29]. This evidence concerns the gene UCHL1 and Leber hereditary optic neuropathy.