Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations.

Abstract

Mitochondrial aminoacyl-transfer RNA (tRNA) synthetases catalyze the attachment of specific amino acids to their cognate tRNA, enabling intramitochondrial protein synthesis. Recessive mutations in their coding nuclear genes are associated with heterogeneous clinical presentations, often displaying leukoencephalopathy.1 The authors thank the patient and his family for their generous collaboration. They thank Prof. Daniele Ghezzi (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy) who kindly provided EARS2 antibody.