{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:29Z","timestamp":1785183869207,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T00:00:00Z","timestamp":1534204800000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T00:00:00Z","timestamp":1534204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000001","name":"National Science Foundation","doi-asserted-by":"publisher","award":["MCB 1715840"],"award-info":[{"award-number":["MCB 1715840"]}],"id":[{"id":"10.13039\/100000001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006928","name":"Ohio State University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006928","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in <jats:italic>FARS2<\/jats:italic>, the gene encoding the mitochondrial phenylalanine\u2010tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction. We report a 9\u2010year\u2010old boy with novel compound heterozygous variants of <jats:italic>FARS2<\/jats:italic>, 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\u2010binding regions, and a maternal missense variant (P136H) possessing partial enzymatic activity. This case confirms and expands the phenotype related to <jats:italic>FARS2<\/jats:italic> mutations with regards to clinical presentation and neuroimaging findings.<\/jats:p>","DOI":"10.1002\/acn3.598","type":"journal-article","created":{"date-parts":[[2018,8,14]],"date-time":"2018-08-14T07:58:32Z","timestamp":1534233512000},"page":"1128-1133","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<i>FARS2<\/i> mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei"],"prefix":"10.1002","volume":"5","author":[{"given":"Supreet K.","family":"Sahai","sequence":"first","affiliation":[{"name":"Department of Neurology Cedars\u2010Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca E.","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Microbiology Ohio State University Columbus Ohio 43210"},{"name":"Center for RNA Biology Ohio State University Columbus Ohio 43210"},{"name":"Ohio State Biochemistry Program Ohio State University Columbus Ohio 43210"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret G.","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Salamon","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences David Geffen School of Medicine University of California Los Angeles Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Ibba","sequence":"additional","affiliation":[{"name":"Department of Microbiology Ohio State University Columbus Ohio 43210"},{"name":"Center for RNA Biology Ohio State University Columbus Ohio 43210"},{"name":"Ohio State Biochemistry Program Ohio State University Columbus Ohio 43210"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tyler M.","family":"Pierson","sequence":"additional","affiliation":[{"name":"Department of Neurology Cedars\u2010Sinai Medical Center Los Angeles California"},{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center Los Angeles California"},{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center Los Angeles 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