{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T12:11:18Z","timestamp":1779451878045,"version":"3.53.1"},"reference-count":23,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:p>\n                    Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease) is a rare autosomal recessive neurodegenerative lysosomal storage disorder characterized by childhood-onset progressive visual loss, epilepsy, and cognitive decline. Although behavioral and emotional symptoms are frequently reported, manic episodes remain rarely characterized within a structured diagnostic framework. We present a 16-year-old girl with progressive visual impairment and epilepsy who developed a manic episode with psychotic features meeting\n                    <jats:italic toggle=\"yes\">Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition<\/jats:italic>\n                    (DSM-5) criteria, including decreased need for sleep, increased goal-directed activity, hypersexuality, pressured speech, and hallucinations. Genetic testing using whole exome sequencing identified a homozygous likely pathogenic variant in CLN3 (c.898C&gt;T), which was also identified in her affected sibling, further supporting the diagnosis of JNCL. The patient showed significant clinical improvement with antipsychotic treatment and multidisciplinary follow-up. This report delineates the neuropsychiatric spectrum associated with CLN3 disease and supports the need for systematic mood symptom monitoring in affected adolescents. These findings should be interpreted as hypothesis-generating, and further studies are needed to clarify the underlying mechanisms.\n                  <\/jats:p>","DOI":"10.1177\/08830738261450262","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T10:46:16Z","timestamp":1779187576000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Mania in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 Disease): A Rare Neuropsychiatric Presentation in an Adolescent"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1093-7529","authenticated-orcid":false,"given":"Ekin","family":"Sut","sequence":"first","affiliation":[{"name":"Private Therapy Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu Nur","family":"Tutam","sequence":"additional","affiliation":[{"name":"Van Training and Research Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2013.04.008"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813494268"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.05.011"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2019.165570"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2009.04.007"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.859"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2010.12.011"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.811686"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-04174-5"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2023.1216861"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12838"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2023.1059082"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph19105895"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2005.00659.x"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-022-01148-5"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2014.06.004"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.12.002"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2020.00071"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.47626\/1516-4446-2022-2650"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1203\/pdr.0b013e31802d8a4a"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1021\/pr301125k"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/08830738251413827"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261450262","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738261450262","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261450262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T11:46:17Z","timestamp":1779450377000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738261450262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,19]]},"references-count":23,"alternative-id":["10.1177\/08830738261450262"],"URL":"https:\/\/doi.org\/10.1177\/08830738261450262","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,19]]},"article-number":"08830738261450262"}}