{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:29:18Z","timestamp":1786739358712,"version":"build-2736575974"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mitochondrial\n                    <jats:italic toggle=\"yes\">WARS2<\/jats:italic>\n                    -related disorders are known to exhibit a broad phenotypic spectrum, ranging from infantile-onset epilepsy syndromes to hyperkinetic movement disorders. We report a case of an 11-year-old male who presented with tremors, dystonic falls, social anxiety, and impulse control disorder (ICD), with onset at 6 years of age. Genetic analysis revealed a likely compound heterozygous mutation in the\n                    <jats:italic toggle=\"yes\">WARS2<\/jats:italic>\n                    gene, involving exon 4 (p.Thr154ProfsTer66) and exon 1 (p.Trp13Gly). He demonstrated a remarkable clinical response to levodopa. This case is notable for its rarity and to our knowledge, represents the first reported instance of a\n                    <jats:italic toggle=\"yes\">WARS2<\/jats:italic>\n                    -related disorder from India.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_235_25","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T10:00:12Z","timestamp":1758535212000},"page":"754-756","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["WARS2-Associated Neuropsychiatric Phenotype in Childhood: A Case-Based Review"],"prefix":"10.4103","volume":"28","author":[{"given":"Shabnam","family":"Kalita","sequence":"first","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishnupriya","family":"Veeraraghavan","sequence":"additional","affiliation":[{"name":"Child Development and Early Intervention Centre, Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaushik","family":"Ragunathan","sequence":"additional","affiliation":[{"name":"Child Development and Early Intervention Centre, Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya Shankar","family":"Kaushik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Guwahati, Assam, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,9,19]]},"reference":[{"key":"R1-20251112","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1111\/cge.13172","article-title":"Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause levodopa-responsive infantile-onset Parkinsonism","volume":"93","author":"Burke","year":"2018","journal-title":"Clin Genet"},{"key":"R2-20251112","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.parkreldis.2021.11.030","article-title":"WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia","volume":"94","author":"Skorvanek","year":"2022","journal-title":"Parkinsonism Relat Disord"},{"key":"R4-20251112","doi-asserted-by":"crossref","first-page":"822","DOI":"10.3390\/genes14040822","article-title":"The expanding phenotypical spectrum of WARS2-related disorder: Four novel cases with a common recurrent variant","volume":"14","author":"Pauly","year":"2023","journal-title":"Genes"},{"key":"R5-20251112","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/mdc3.12855","article-title":"Mutation of the WARS2 gene as the cause of a severe hyperkinetic movement disorder","volume":"7","author":"H\u00fcbers","year":"2020","journal-title":"Mov Disord Clin Pract"},{"key":"R6-20251112","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1177\/0883073819854604","article-title":"Expanding the phenotype: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS) due to WARS2 biallelic variants, encoding mitochondrial tryptophanyl-tRNA synthase","volume":"34","author":"Virdee","year":"2019","journal-title":"J Child Neurol"},{"key":"R7-20251112","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/humu.23205","article-title":"Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability","volume":"38","author":"Musante","year":"2017","journal-title":"Hum Mutat"},{"key":"R8-20251112","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.1002\/ajmg.a.38339","article-title":"Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy","volume":"173","author":"Theisen","year":"2017","journal-title":"Am J Med Genet A"},{"key":"R9-20251112","doi-asserted-by":"crossref","first-page":"413","DOI":"10.3988\/jcn.2022.0410","article-title":"A Novel WARS2 mutation in a swiss family with predominant generalized dystonia responsive to trihexyphenidyl","volume":"19","author":"Mihaylova","year":"2023","journal-title":"J Clin Neurol"},{"key":"R10-20251112","doi-asserted-by":"crossref","first-page":"2616","DOI":"10.1007\/s12311-024-01725-7","article-title":"Compound heterozygous WARS2 variants including a hypomorphic allele cause a milder phenotype of complex dopa responsive dystonia: Case report and review of the literature","volume":"23","author":"Schneider","year":"2024","journal-title":"Cerebellum"},{"key":"R11-20251112","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1002\/humu.23340","article-title":"Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy","volume":"38","author":"Wortmann","year":"2017","journal-title":"Hum Mutat"},{"key":"R12-20251112","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/s13023-018-0822-6","article-title":"Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency","volume":"13","author":"Vantroys","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"R13-20251112","doi-asserted-by":"crossref","first-page":"e654","DOI":"10.1002\/mgg3.654","article-title":"Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy","volume":"7","author":"Maffezzini","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"R14-20251112","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.parkreldis.2020.02.003","article-title":"Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism","volume":"72","author":"Martinelli","year":"2020","journal-title":"Parkinsonism Relat Disord"},{"key":"R15-20251112","doi-asserted-by":"crossref","first-page":"117675","DOI":"10.1016\/j.jns.2021.117675","article-title":"In-depth phenotyping of movement disorders in WARS2 encephalopathy","volume":"429","author":"Galosi","year":"2021","journal-title":"J Neurol Sci"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_235_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:28:20Z","timestamp":1786735700000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_235_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_235_25","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"2025-03-12","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-02","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}