Some nuclear gene mutations have been found to have association with distinctive radiological appearances which can expedite the candidate gene sequencing, these include leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) caused by DARS2 mutations [89] and leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) caused by EARS2 mutations [78]. This evidence concerns the gene EARS2 and Leukoencephalopathy.