Mutations in FARS2, the gene encoding the mitochondrial phenylalanine‐tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction. We report a 9‐year‐old boy with novel compound heterozygous variants of FARS2, presenting with a pure spastic paraplegia syndrome associated with bilateral signal abnormalities in the dentate nuclei. Exome sequencing identified a paternal nonsense variant (Q216X) lacking the catalytic core and anticodon‐binding regions, and a maternal missense variant (P136H) possessing partial enzymatic activity. This case confirms and expands the phenotype related to FARS mutations with regards to clinical presentation and neuroimaging findings.
Sahai, S.K., Steiner, R.E., Au, M.G., Graham, J.M., Salamon, N., Ibba, M. and Pierson, T.M. (2018) FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. Ann. Clin. Transl. Neurol. 5, 1128-1133. https://doi.org/10.1002/acn3.598
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