{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T15:26:25Z","timestamp":1773415585183,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:00:00Z","timestamp":1753315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["Ricerca Corrente 2025"],"award-info":[{"award-number":["Ricerca Corrente 2025"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"publisher","award":["National Network on Rare Neuropaediatric Diseases"],"award-info":[{"award-number":["National Network on Rare Neuropaediatric Diseases"]}],"id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009888","name":"Regione Toscana","doi-asserted-by":"publisher","award":["Bando Ricerca Salute 2018 DEM AGING"],"award-info":[{"award-number":["Bando Ricerca Salute 2018 DEM AGING"]}],"id":[{"id":"10.13039\/501100009888","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To address disease progression in a cohort of patients with childhood\u2010onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>In this retrospective study, selected clinical features (age at onset, at death, and disease duration) and pathogenicity of individual genotypes were selected and matched from the database of the Italian network of NCLs. A cohort of 152 children with molecularly diagnosed NCL were grouped by age at onset and subdivided according to the associated mutated gene. Clinical features were assessed by descriptive statistics and the significance level by non\u2010parametric tests. The pathogenicity of patients' genotypes in each NCL form was categorized following the guidelines of the American College of Medical Genetics (ACMG) and matched with the phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The median age at onset was 4\u2009years; the median age at death was 17\u2009years. The earliest disease onset was related to the shortest lifespan (6\u2009years). Earlier onset and short survival were associated with mutated genes encoding for lysosomal enzymes. High percentages of pathogenic variants were identified and associated with 79.3% of genotypes. The evaluated clinical parameters were not necessarily linked to the genotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>The age of onset is a good indicator of the expected lifespan of a child with NCL. The ACMG classes of variant partly foresee the outcome of NCL phenotypes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.16416","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T04:53:36Z","timestamp":1753419216000},"page":"276-286","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses"],"prefix":"10.1111","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6908-5418","authenticated-orcid":false,"given":"Alessandro","family":"Simonati","sequence":"first","affiliation":[{"name":"Department of Surgery, Dentistry, Paediatrics and Gynaecology University of Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1590-4558","authenticated-orcid":false,"given":"Francesco","family":"Pezzini","sequence":"additional","affiliation":[{"name":"Department of Surgery, Dentistry, Paediatrics and Gynaecology University of Verona  Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5863-5592","authenticated-orcid":false,"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[{"name":"Neurological Institute C Besta Foundation  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"CLNet Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit IRCCS Stella Maris Foundation  Calambrone (Pisa) Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0023"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201019"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.08.031"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.811686"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2015.04.027"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.15822"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.754045"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0003"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24088"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107715"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20104642(18)30179\u20102"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738060210110801"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2008.01054.x"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn366"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.02.013"},{"key":"e_1_2_10_19_1","first-page":"69","volume-title":"NCL 2023 Abstract Book","author":"Moore N","year":"2023"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002780\u20109"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073\u2010021\u201000878\u2010y"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14102"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24394"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1712649"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.addr.2022.114464"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011\u2010022\u201000939\u20100"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12615"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(23)00384\u20108"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1813279"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40824\u2010023\u201000381\u2010y"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2024.106536"}],"container-title":["Developmental Medicine &amp; 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