Specifically, mutations in AARS1 have been identified as the likely cause of Swedish-type hereditary diffuse leukoencephalopathy with spheroids 2 (HDLS2 or HDLS-S) (Sundal et al., 2019), and a dominant HARS1 variant has been linked to cerebellar degeneration, cognitive impairments, and peripheral neuropathy (Royer-Bertrand et al., 2019). This evidence concerns the gene AARS1 and leukoencephalopathy, hereditary diffuse, with spheroids 2.