Considering that it is a protein that is structurally and functionally related to the mitochondria, similar to other mitochondrial contexts, such as variants in nuclear genome genes, like MFN2, OPA1, OPA2, OPA10, and mitochondrial genomes, such as some forms of Leber Hereditary Optic Neuropathy [10,11,12,32], heterozygous forms of PNPT1 should be strongly considered during the investigation of patients with cerebellar ataxia or spastic ataxia associated with optic atrophy. Here, PNPT1 is linked to aceruloplasminemia.