In summary, this case suggests an association between the homozygous variant c.457A>C in LARS2 and a severe, adult-onset, neurologic phenotype including leukoencephalopathy, cognitive decline, progressive spastic tetraparesis, myopathy, and epilepsy within the expanding LARS2 spectrum. Physicians should be aware that LARS2 variants can manifest as a multisystem disorder and not just as Perrault syndrome. Here, LARS2 is linked to Perrault syndrome.