FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. Issue 9 (14th August 2018)

• Record Type: Journal Article
• Authors: Sahai, Supreet K.; Steiner, Rebecca E.; Au, Margaret G.; Graham, John M.; Salamon, Noriko; Ibba, Michael; Pierson, Tyler M.
• Is Part Of: Annals of clinical and translational neurology. Volume 5:Issue 9(2018)
• Page Start: 1128
• Page End: 1133
• Publication Date: 2018-08-14
• Subjects: Nervous system -- Diseases -- Periodicals; Neurology -- Periodicals; 616.8005
• DOI: 10.1002/acn3.598
• Languages: English
• ISSNs: 2328-9503

Abstract

Abstract: 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 FARS2 mutations with regards to clinical presentation and neuroimaging findings.