{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:15Z","timestamp":1779789735432,"version":"3.53.1"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Hereditary spastic paraplegia type 62 (SPG62) is a neurodegenerative disorder, with more than 20 individuals reported to date. This ultra\u2010rare entity is inherited in an autosomal recessive manner and has been associated with\n                    <jats:italic>ERLIN1<\/jats:italic>\n                    variants. In addition,\n                    <jats:italic>ERLIN1<\/jats:italic>\n                    \u2010related biallelic variants have been linked to early\u2010onset amyotrophic lateral sclerosis (ALS). We present two siblings with slowly progressive spastic paraplegia, with mild intellectual decline, behavioral findings, and hyperacusis. This study expands the clinical spectrum of hereditary spastic paraplegia associated with\n                    <jats:italic>ERLIN1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.70006","type":"journal-article","created":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T05:14:53Z","timestamp":1753161293000},"page":"149-154","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotypic Spectrum of\n                    <scp>ERLIN1<\/scp>\n                    \u2010Related\n                    <scp>SPG62<\/scp>\n                    : Report of Two Siblings With Behavioral Features and Hyperacusis"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6398-1511","authenticated-orcid":false,"given":"Gulsah Sebnem","family":"Ozkose","sequence":"first","affiliation":[{"name":"Department of Translational Medicine Acibadem Mehmet Ali Aydinlar University, Health Sciences Institute  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Topcu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neurology Istanbul Medipol University, School of Medicine  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beril","family":"Ay","sequence":"additional","affiliation":[{"name":"School of Medicine Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozkan","family":"Ozdemir","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Medical Biology Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"},{"name":"Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE)  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Akgun\u2010Dogan","sequence":"additional","affiliation":[{"name":"Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE)  Istanbul T\u00fcrkiye"},{"name":"School of Medicine, Department of Pediatrics, Division of Pediatric Genetics Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"},{"name":"School of Medicine, Department of Medical Genetics Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden Hatirnaz","family":"Ng","sequence":"additional","affiliation":[{"name":"School of Medicine, Department of Medical Biology Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"},{"name":"Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE)  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE)  Istanbul T\u00fcrkiye"},{"name":"School of Medicine, Department of Pediatrics, Division of Pediatric Genetics Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"},{"name":"School of Medicine, Department of Medical Genetics Acibadem Mehmet Ali Aydinlar University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031697"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104608"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010024\u201002702\u20100"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2024.01.005"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010018\u20100107\u20105"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.12.020"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010023\u201002579\u20109"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2022.108648"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70006","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70006","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:02:57Z","timestamp":1779786177000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,21]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70006"],"URL":"https:\/\/doi.org\/10.1111\/cge.70006","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70006\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70006\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,21]]},"assertion":[{"value":"2025-02-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}