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]. This evidence concerns the gene SLC25A46 and autosomal recessive cerebellar ataxia.