{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:04:56Z","timestamp":1777043096052,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T00:00:00Z","timestamp":1767052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T00:00:00Z","timestamp":1767052800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109549s0202"],"award-info":[{"award-number":["22ek0109549s0202"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["22ek0109493s1003"],"award-info":[{"award-number":["22ek0109493s1003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non\u2010Finnish populations. Here, we report the first Japanese case of CLN5 in a 12\u2010year\u2010old girl with progressive myoclonic epilepsy and psychomotor regression. Initial assessments for common metabolic disorders, including GM2 gangliosidosis, were inconclusive. Trio\u2010based genome sequencing (GS) identified a novel homozygous pathogenic variant in\n                    <jats:italic>CLN5<\/jats:italic>\n                    , confirming the diagnosis at 10\u2009years and 6\u2009months of age. Subsequent evaluations revealed progressive cerebral and cerebellar atrophy and vision loss. This case underscores the importance of GS in diagnosing rare neurodegenerative diseases and highlights the clinical spectrum of CLN5, which presents with rapid neurological decline. Expanding diagnostic frameworks with genetic testing is critical for early diagnosis and potential therapeutic interventions in CLN5 and related NCL disorders.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71739","type":"journal-article","created":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T02:19:11Z","timestamp":1767147551000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["First Reported Case of\n                    <scp>CLN5<\/scp>\n                    Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7993-1964","authenticated-orcid":false,"given":"Eriko","family":"Nishi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morimasa","family":"Shima","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumi","family":"Kawato","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Narita","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Faculty of Medicine, Institute of Neurological Science Tottori University  Yonago Japan"},{"name":"Pediatrics\/Center for Promoting Treatment of Intractable Diseases ISEIKAI International General Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[{"name":"Pediatrics\/Center for Promoting Treatment of Intractable Diseases ISEIKAI International General Hospital  Osaka Japan"},{"name":"Child Healthcare and Genetic Science Laboratory, Division of Health Sciences Osaka University Graduate School of Medicine  Suita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Yanagihara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Osaka Women's and Children's Hospital  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-9610","authenticated-orcid":false,"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,30]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/975"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg9288"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.55.4.579"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2020.116826"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.536221"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.845877"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(18)30368\u20105"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1212228"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2023.1212235"}],"container-title":["Clinical Case 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