{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T15:52:44Z","timestamp":1778601164505,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["2018\u2010ER6902\u201002"],"award-info":[{"award-number":["2018\u2010ER6902\u201002"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003669","name":"Korea Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["2019\u2010NG\u2010051\u201001"],"award-info":[{"award-number":["2019\u2010NG\u2010051\u201001"]}],"id":[{"id":"10.13039\/501100003669","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. <jats:italic>SPG7<\/jats:italic> encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an autosomal recessive trait. Various ophthalmological findings including optic atrophy, ophthalmoplegia, or nystagmus have been reported in patients with spastic paraplegia type 7. We report a 15\u2010year\u2010old male patient with a novel heterozygous variant, c.1224T&gt;G:p.(Asp408Glu) in <jats:italic>SPG7<\/jats:italic> (NM_003119.3) causing early onset isolated optic atrophy and infantile nystagmus prior to the onset of neurological symptoms. Therefore, <jats:italic>SPG7<\/jats:italic> should be considered a cause of infantile nystagmus with optic atrophy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63037","type":"journal-article","created":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T12:21:10Z","timestamp":1668169270000},"page":"582-585","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expanding <i>SPG7<\/i> dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4970-7739","authenticated-orcid":false,"given":"Yuri","family":"Seo","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Institute of Vision Research, Yongin Severance Hospital Yonsei University College of Medicine  Yongin South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Taek","family":"Lim","sequence":"additional","affiliation":[{"name":"Seoul Orthopia Eye Clinic  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Joo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Asan Medical Center University of Ulsan College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8607-6625","authenticated-orcid":false,"given":"Jinu","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital Yonsei University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.602979"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000000428"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000007606"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201185.91110.15"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2022.101400"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000000279"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006975"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws240"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7432-6"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu060"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts526"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.103050"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01896.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63037","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63037","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T11:44:52Z","timestamp":1692445492000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,11]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["10.1002\/ajmg.a.63037"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63037","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,11]]},"assertion":[{"value":"2022-05-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}