Homozygous as well as compound heterozygous missense mutations of the gene encoding the cytoplasmic aspartyl-tRNA synthetase DARS, which is responsible for the charging of aspartate, cause the severe leukodystrophy hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) (Taft et al., 2013). Here, DARS1 is linked to leukodystrophy.