In-depth phenotyping of movement disorders in WARS2 encephalopathy

Mitochondrial aminoacyl-tRNA synthetases are essential components of the mitochondrial translation machinery recently associated with a wide spectrum of human diseases. Biallelic mutations in WARS2 gene, which encodes mitochondrial tryptophanyl-tRNA synthetase, result in early onset neurological disorders, including lethal neonatal encephalomyopathy and milder presentations with pyramidal and extra-pyramidal signs. We aim to assess the neurological phenotype of children with WARS2 related disorders with a focus on movement disorders.