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]. The gene discussed is UCHL1; the disease is aceruloplasminemia.