Homozygous or compound heterozygous mutations of SLC25A46 led to a range of clinical syndromes, with the clinical feature of optic atrophy, cerebellar atrophy, progressive myoclonic ataxia, axonal peripheral neuropathy, autosomal recessive cerebellar ataxias (ARCA), lethal congenital pontocerebellar hypoplasia, and even Parkinson’s disease [6, 26, 29–34]. The gene discussed is SLC25A46; the disease is axonal neuropathy.