{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T09:40:44Z","timestamp":1792748444650,"version":"4.5.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,3,31]]},"DOI":"10.7759\/cureus.106193","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T14:08:08Z","timestamp":1774966088000},"source":"Crossref","is-referenced-by-count":1,"title":["Perrault Plus Syndrome Due to the LARS2 Variant c.457A>C Manifesting With Epilepsy, Cognitive Impairment, Myopathy, Spastic Tetraparesis, and Deafness: A Case Report"],"prefix":"10.7759","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","unstructured":"LARS2 gene - leucyl-TRNA synthetase 2, mitochondrial. (2026). Accessed. 2026: https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=LARS2."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01028-8","article-title":"LARS2-Perrault syndrome: a new case report and literature review","volume":"21","author":"Carminho-Rodrigues MT","year":"2020","unstructured":"Carminho-Rodrigues MT, Klee P, Laurent S, et al.. LARS2-Perrault syndrome: a new case report and literature review. BMC Med Genet. 2020, 21:109. 10.1186\/s12881-020-01028-8","journal-title":"BMC Med Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24050","article-title":"The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy","volume":"41","author":"Riley LG","year":"2020","unstructured":"Riley LG, Rudinger-Thirion J, Frugier M, et al.. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat. 2020, 41:1425-34. 10.1002\/humu.24050","journal-title":"Hum Mutat"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.007","article-title":"Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome","volume":"92","author":"Pierce SB","year":"2013","unstructured":"Pierce SB, Gersak K, Michaelson-Cohen R, et al.. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013, 92:614-20. 10.1016\/j.ajhg.2013.03.007","journal-title":"Am J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.149","article-title":"First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family","volume":"61","author":"Sold\u00e0 G","year":"2016","unstructured":"Sold\u00e0 G, Caccia S, Robusto M, et al.. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. J Hum Genet. 2016, 61:295-300. 10.1038\/jhg.2015.149","journal-title":"J Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12776","article-title":"Expanding the genotypic spectrum of Perrault syndrome","volume":"91","author":"Demain LA","year":"2017","unstructured":"Demain LA, Urquhart JE, O'Sullivan J, et al.. Expanding the genotypic spectrum of Perrault syndrome. Clin Genet. 2017, 91:302-12. 10.1111\/cge.12776","journal-title":"Clin Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23120","article-title":"An application of NGS for molecular investigations in Perrault syndrome: study of 14 families and review of the literature","volume":"37","author":"Lerat J","year":"2016","unstructured":"Lerat J, Jonard L, Loundon N, et al.. An application of NGS for molecular investigations in Perrault syndrome: study of 14 families and review of the literature. Hum Mutat. 2016, 37:1354-62. 10.1002\/humu.23120","journal-title":"Hum Mutat"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000198","article-title":"Marfanoid habitus is a nonspecific feature of Perrault syndrome","volume":"26","author":"Zerkaoui M","year":"2017","unstructured":"Zerkaoui M, Demain LA, Cherkaoui Jaouad I, et al.. Marfanoid habitus is a nonspecific feature of Perrault syndrome. Clin Dysmorphol. 2017, 26:200-4. 10.1097\/MCD.0000000000000198","journal-title":"Clin Dysmorphol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38552","article-title":"Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms","volume":"176","author":"Kosaki R","year":"2018","unstructured":"Kosaki R, Horikawa R, Fujii E, Kosaki K. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A. 2018, 176:404-8. 10.1002\/ajmg.a.38552","journal-title":"Am J Med Genet A"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007098","article-title":"Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy","volume":"92","author":"van der Knaap MS","year":"2019","unstructured":"van der Knaap MS, Bugiani M, Mendes MI, et al.. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology. 2019, 92:e1225-37. 10.1212\/WNL.0000000000007098","journal-title":"Neurology"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1080\/09513590.2019.1637407","article-title":"Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc","volume":"35","author":"Al-Jaroudi D","year":"2019","unstructured":"Al-Jaroudi D, Enabi S, AlThagafi MS. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc. Gynecol Endocrinol. 2019, 35:1037-9. 10.1080\/09513590.2019.1637407","journal-title":"Gynecol Endocrinol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64064","article-title":"LARS2-related Perrault syndrome in siblings with 46,XY differences of sex development","volume":"197","author":"Adam AP","year":"2025","unstructured":"Adam AP, O'Sullivan L, Peterson A, Yabumoto M, Merguerian P, Adam MP. LARS2-related Perrault syndrome in siblings with 46,XY differences of sex development. Am J Med Genet A. 2025, 197:e64064. 10.1002\/ajmg.a.64064","journal-title":"Am J Med Genet A"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1155\/2024\/5319443","article-title":"Delayed diagnosis of Perrault syndrome: a rare genetic disorder","volume":"2024","author":"Bayanova M","year":"2024","unstructured":"Bayanova M, Abilova A, Nauryzbayeva A, Turarbekova Z. Delayed diagnosis of Perrault syndrome: a rare genetic disorder. Case Rep Med. 2024, 2024:5319443. 10.1155\/2024\/5319443","journal-title":"Case Rep Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn115330-20230329-00140","article-title":"Analysis of Perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes [Article in Chinese]","volume":"58","author":"Lei YB","year":"2023","unstructured":"Lei YB, Sun SP, Mao L, Xu HE, Tang WX, Pan ZY, Lu W. Analysis of Perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes [Article in Chinese]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023, 58:1191-7. 10.3760\/cma.j.cn115330-20230329-00140","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01252-1","article-title":"LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss","volume":"31","author":"Neyroud AS","year":"2023","unstructured":"Neyroud AS, Rudinger-Thirion J, Frugier M, et al.. LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss. Eur J Hum Genet. 2023, 31:453-60. 10.1038\/s41431-022-01252-1","journal-title":"Eur J Hum Genet"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2004.11.041","article-title":"Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia","volume":"57","author":"Munakata K","year":"2005","unstructured":"Munakata K, Iwamoto K, Bundo M, Kato T. Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia. Biol Psychiatry. 2005, 57:525-32. 10.1016\/j.biopsych.2004.11.041","journal-title":"Biol Psychiatry"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s43032-025-01968-7","article-title":"Integrated transcriptomics and single-cell RNA sequencing analyses reveal the potential role of obesity-related genes in polycystic ovary syndrome","volume":"32","author":"Gong X","year":"2025","unstructured":"Gong X. Integrated transcriptomics and single-cell RNA sequencing analyses reveal the potential role of obesity-related genes in polycystic ovary syndrome. Reprod Sci. 2025, 32:3287-304. 10.1007\/s43032-025-01968-7","journal-title":"Reprod Sci"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2022.110536","article-title":"Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression","volume":"103","author":"Chen J","year":"2023","unstructured":"Chen J, Liu W. Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression. Cell Signal. 2023, 103:110536. 10.1016\/j.cellsig.2022.110536","journal-title":"Cell Signal"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2022.07.017","article-title":"Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion","volume":"55","author":"Wang Z","year":"2022","unstructured":"Wang Z, Lu Z, Lin S, et al.. Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion. Immunity. 2022, 55:1748. 10.1016\/j.immuni.2022.07.017","journal-title":"Immunity"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.010998","article-title":"Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation","volume":"295","author":"Gong S","year":"2020","unstructured":"Gong S, Wang X, Meng F, et al.. Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation. J Biol Chem. 2020, 295:940-54. 10.1074\/jbc.RA119.010998","journal-title":"J Biol Chem"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/470088-perrault-plus-syndrome-due-to-the-lars2-variant-c457ac-manifesting-with-epilepsy-cognitive-impairment-myopathy-spastic-tetraparesis-and-deafness-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T14:08:10Z","timestamp":1774966090000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/470088-perrault-plus-syndrome-due-to-the-lars2-variant-c457ac-manifesting-with-epilepsy-cognitive-impairment-myopathy-spastic-tetraparesis-and-deafness-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,31]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.106193","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3,31]]}}}