{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T09:38:55Z","timestamp":1787564335411,"version":"build-2736575974"},"reference-count":72,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T00:00:00Z","timestamp":1762387200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T00:00:00Z","timestamp":1762387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103536-7954"],"award-info":[{"award-number":["P50 HD103536-7954"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurodevelop Disord"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      CLN3 disease, also known as juvenile Batten disease, is a recessively inherited neurodevelopmental disorder caused by mutations in the\n                      <jats:italic>CLN3<\/jats:italic>\n                      gene. It represents the most common form of Neuronal Ceroid Lipofuscinoses (NCLs), a group of lysosomal storage disorders that impair brain function. Clinical features include progressive vision loss, language impairment, and cognitive decline. The early onset of visual deficits complicates the neurological assessment of cognitive dysfunction, while the rarity of\n                      <jats:italic>CLN3<\/jats:italic>\n                      cases limits the study of sex-specific disease trajectories in humans. Therefore, there is a critical need for objective, translational biomarkers to monitor disease progression and support therapeutic development in preclinical animal models.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Building on our recent studies in individuals with CLN3 disease, we developed a parallel experimental paradigm using high-density electroencephalography (EEG) in\n                      <jats:italic>Cln3<\/jats:italic>\n                      knockout (\n                      <jats:italic>Cln3-\/-)<\/jats:italic>\n                      mice to longitudinally assess auditory neurophysiological changes. We applied a duration-based mismatch negativity (MMN) paradigm, similar to that used in our human studies, to evaluate automatic detection of auditory pattern changes in male and female mice between 3 and 9 months of age.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Wild-type (WT) mice of both sexes showed robust and stable duration MMN responses across this age range. In contrast,\n                      <jats:italic>Cln3-\/-<\/jats:italic>\n                      mice showed marked sex- and age-dependent deficits: female mutants displayed persistent MMN deficits, whereas male mutants exhibited early MMN abnormalities that unexpectedly improved with age. Auditory brainstem responses confirmed intact peripheral hearing in\n                      <jats:italic>Cln3-\/-<\/jats:italic>\n                      mice, indicating a central origin for the observed abnormalities. Further analyses revealed that MMN impairments were driven by age- and sex-specific alterations in auditory evoked potentials to both standard and deviant stimuli.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These findings demonstrate sex- and age-dependent disruptions in central auditory processing in\n                      <jats:italic>Cln3-\/-<\/jats:italic>\n                      mice and support auditory duration MMN as a sensitive, translational biomarker of brain dysfunction in CLN3 disease. This approach offers a functional, cross-species measure for tracking disease progression and evaluating therapeutic interventions in Batten disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s11689-025-09652-2","type":"journal-article","created":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T07:42:33Z","timestamp":1762414953000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease"],"prefix":"10.1186","volume":"17","author":[{"given":"Yanya","family":"Ding","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyu","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viollandi","family":"Prifti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace A.","family":"Rico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander G.","family":"Solorzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley E.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward G.","family":"Freedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Foxe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuan Hong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,6]]},"reference":[{"issue":"3","key":"9652_CR1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/s41582-019-0138-8","volume":"15","author":"TB Johnson","year":"2019","unstructured":"Johnson TB, Cain JT, White KA, Ramirez-Montealegre D, Pearce DA, Weimer JM. Therapeutic landscape for Batten disease: current treatments and future prospects. Nat Rev Neurol. 2019;15(3):161\u201378. https:\/\/doi.org\/10.1038\/s41582-019-0138-8.","journal-title":"Nat Rev Neurol"},{"issue":"6","key":"9652_CR2","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1016\/0092-8674(95)90274-0","volume":"82","author":"Consortium TIBD","year":"1995","unstructured":"Consortium TIBD, The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. Cell. 1995;82(6):949\u201357. https:\/\/doi.org\/10.1016\/0092-8674(95)90274-0.","journal-title":"Cell"},{"issue":"10","key":"9652_CR3","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.bbadis.2006.06.010","volume":"1762","author":"M Haltia","year":"2006","unstructured":"Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta. Oct 2006;1762(10):850\u20136. https:\/\/doi.org\/10.1016\/j.bbadis.2006.06.010.","journal-title":"Biochim Biophys Acta"},{"issue":"9","key":"9652_CR4","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1177\/0883073813494268","volume":"28","author":"JW Mink","year":"2013","unstructured":"Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013;28(9):1101\u20135. https:\/\/doi.org\/10.1177\/0883073813494268.","journal-title":"J Child Neurol"},{"key":"9652_CR5","doi-asserted-by":"publisher","first-page":"73","DOI":"10.2147\/DNND.S111967","volume":"6","author":"JR Ostergaard","year":"2016","unstructured":"Ostergaard JR. Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights. Degen Neurol Neuromuscul Dis. 2016;6:73\u201383. https:\/\/doi.org\/10.2147\/DNND.S111967.","journal-title":"Degen Neurol Neuromuscul Dis"},{"issue":"1","key":"9652_CR6","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1038\/s42003-021-01682-5","volume":"4","author":"C Tang","year":"2021","unstructured":"Tang C, et al. A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface. Commun Biol. Feb 5 2021;4(1):161. https:\/\/doi.org\/10.1038\/s42003-021-01682-5.","journal-title":"Commun Biol"},{"issue":"3","key":"9652_CR7","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.ejpn.2012.10.011","volume":"17","author":"AK Nielsen","year":"2013","unstructured":"Nielsen AK, Ostergaard JR. Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience. Eur J Paediatr Neurol. May 2013;17(3):265\u20138. https:\/\/doi.org\/10.1016\/j.ejpn.2012.10.011.","journal-title":"Eur J Paediatr Neurol"},{"issue":"12","key":"9652_CR8","doi-asserted-by":"publisher","first-page":"2544","DOI":"10.1016\/j.clinph.2007.04.026","volume":"118","author":"R Naatanen","year":"2007","unstructured":"Naatanen R, Paavilainen P, Rinne T, Alho K. The mismatch negativity (MMN) in basic research of central auditory processing: a review. Clin Neurophysiol. Dec 2007;118(12):2544\u201390. https:\/\/doi.org\/10.1016\/j.clinph.2007.04.026.","journal-title":"Clin Neurophysiol"},{"issue":"1","key":"9652_CR9","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/s11689-023-09515-8","volume":"16","author":"T Brima","year":"2024","unstructured":"Brima T, et al. Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN). J Neurodev Disord. Jan 6 2024;16(1):3. https:\/\/doi.org\/10.1186\/s11689-023-09515-8.","journal-title":"J Neurodev Disord"},{"issue":"5","key":"9652_CR10","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1177\/0883073807302603","volume":"22","author":"HR Adams","year":"2007","unstructured":"Adams HR, Kwon J, Marshall FJ, de Blieck EA, Pearce DA, Mink JW. Neuropsychological symptoms of juvenile-onset Batten disease: experiences from 2 studies. J Child Neurol. 2007;22(5):621\u20137. https:\/\/doi.org\/10.1177\/0883073807302603.","journal-title":"J Child Neurol"},{"issue":"3","key":"9652_CR11","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/nrneurol.2017.15","volume":"13","author":"ME Modi","year":"2017","unstructured":"Modi ME, Sahin M. Translational use of event-related potentials to assess circuit integrity in ASD. Nat Rev Neurol. 2017;13(3):160\u201370. https:\/\/doi.org\/10.1038\/nrneurol.2017.15.","journal-title":"Nat Rev Neurol"},{"issue":"6","key":"9652_CR12","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1038\/nn.3710","volume":"17","author":"D Goffin","year":"2014","unstructured":"Goffin D, Brodkin ES, Blendy JA, Siegel SJ, Zhou Z. Cellular origins of auditory event-related potential deficits in Rett syndrome. Nat Neurosci. 2014;17(6):804\u20136. https:\/\/doi.org\/10.1038\/nn.3710.","journal-title":"Nat Neurosci"},{"issue":"5","key":"9652_CR13","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1093\/cercor\/bhh155","volume":"15","author":"S Molholm","year":"2005","unstructured":"Molholm S, Martinez A, Ritter W, Javitt DC, Foxe JJ. The neural circuitry of pre-attentive auditory change-detection: an fMRI study of pitch and duration mismatch negativity generators. Cereb Cortex. 2005;15(5):545\u201351. https:\/\/doi.org\/10.1093\/cercor\/bhh155.","journal-title":"Cereb Cortex"},{"key":"9652_CR14","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2020.00468","volume":"11","author":"K Fitzgerald","year":"2020","unstructured":"Fitzgerald K, Todd J. Making sense of mismatch negativity. Front Psychiatry. 2020;11:468. https:\/\/doi.org\/10.3389\/fpsyt.2020.00468.","journal-title":"Front Psychiatry"},{"issue":"12","key":"9652_CR15","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.859","volume":"7","author":"M Mirza","year":"2019","unstructured":"Mirza M, et al. The CLN3 gene and protein: what we know. Mol Genet Genomic Med. 2019;7(12):e859. https:\/\/doi.org\/10.1002\/mgg3.859.","journal-title":"Mol Genet Genomic Med"},{"key":"9652_CR16","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2013.00115","volume":"4","author":"T Nagai","year":"2013","unstructured":"Nagai T, Tada M, Kirihara K, Araki T, Jinde S, Kasai K. Mismatch negativity as a translatable brain marker toward early intervention for psychosis: a review. Front Psychiatry. 2013;4:115. https:\/\/doi.org\/10.3389\/fpsyt.2013.00115.","journal-title":"Front Psychiatry"},{"issue":"5","key":"9652_CR17","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1006\/nbdi.1999.0267","volume":"6","author":"HM Mitchison","year":"1999","unstructured":"Mitchison HM, The Batten Mouse Model Consortium, et al. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. Neurobiol Dis. 1999;6(5):321\u201334. https:\/\/doi.org\/10.1006\/nbdi.1999.0267.","journal-title":"Neurobiol Dis"},{"issue":"2","key":"9652_CR18","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/j.brainres.2004.07.030","volume":"1023","author":"CC Pontikis","year":"2004","unstructured":"Pontikis CC, et al. Late onset neurodegeneration in the Cln3-\/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation. Brain Res. 2004;1023(2):231\u201342. https:\/\/doi.org\/10.1016\/j.brainres.2004.07.030.","journal-title":"Brain Res"},{"issue":"2","key":"9652_CR19","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.nbd.2007.08.017","volume":"29","author":"ML Katz","year":"2008","unstructured":"Katz ML, Johnson GS, Tullis GE, Lei B. Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis. Neurobiol Dis. Feb2008;29(2):242\u201353. https:\/\/doi.org\/10.1016\/j.nbd.2007.08.017.","journal-title":"Neurobiol Dis"},{"issue":"4","key":"9652_CR20","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1242\/dmm.018804","volume":"8","author":"AD Kovacs","year":"2015","unstructured":"Kovacs AD, Pearce DA. Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender. Dis Model Mech. 2015;8(4):351\u201361. https:\/\/doi.org\/10.1242\/dmm.018804.","journal-title":"Dis Model Mech"},{"key":"9652_CR21","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.28685","author":"B Grunewald","year":"2017","unstructured":"Grunewald B, et al. Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis. Elife. 2017. https:\/\/doi.org\/10.7554\/eLife.28685.","journal-title":"Elife"},{"issue":"3","key":"9652_CR22","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.nbd.2005.12.018","volume":"22","author":"AD Kovacs","year":"2006","unstructured":"Kovacs AD, Weimer JM, Pearce DA. Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. Neurobiol Dis. Jun2006;22(3):575\u201385. https:\/\/doi.org\/10.1016\/j.nbd.2005.12.018.","journal-title":"Neurobiol Dis"},{"issue":"2","key":"9652_CR23","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.nbd.2005.11.008","volume":"22","author":"JM Weimer","year":"2006","unstructured":"Weimer JM, et al. Visual deficits in a mouse model of Batten disease are the result of optic nerve degeneration and loss of dorsal lateral geniculate thalamic neurons. Neurobiol Dis. 2006;22(2):284\u201393. https:\/\/doi.org\/10.1016\/j.nbd.2005.11.008.","journal-title":"Neurobiol Dis"},{"issue":"2","key":"9652_CR24","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.nbd.2010.09.011","volume":"41","author":"SL Ding","year":"2011","unstructured":"Ding SL, Tecedor L, Stein CS, Davidson BL. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures. Neurobiol Dis. 2011;41(2):237\u201348. https:\/\/doi.org\/10.1016\/j.nbd.2010.09.011.","journal-title":"Neurobiol Dis"},{"key":"9652_CR25","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.nbd.2016.12.022","volume":"100","author":"M Burkovetskaya","year":"2017","unstructured":"Burkovetskaya M, Karpuk N, Kielian T. Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). Neurobiol Dis. Apr 2017;100:19\u201329. https:\/\/doi.org\/10.1016\/j.nbd.2016.12.022.","journal-title":"Neurobiol Dis"},{"issue":"3","key":"9652_CR26","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1007\/s10545-011-9421-6","volume":"35","author":"J Cialone","year":"2012","unstructured":"Cialone J, et al. Females experience a more severe disease course in Batten disease. J Inherit Metab Dis. May 2012;35(3):549\u201355. https:\/\/doi.org\/10.1007\/s10545-011-9421-6.","journal-title":"J Inherit Metab Dis"},{"issue":"11","key":"9652_CR27","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2022.166489","volume":"1868","author":"A McShane","year":"2022","unstructured":"McShane A, Mole SE. Sex bias and omission exists in Batten disease research: systematic review of the use of animal disease models. Biochimica et Biophysica Acta (BBA). 2022;1868(11):166489. https:\/\/doi.org\/10.1016\/j.bbadis.2022.166489.","journal-title":"Biochimica et Biophysica Acta (BBA)"},{"issue":"1","key":"9652_CR28","doi-asserted-by":"publisher","first-page":"10591","DOI":"10.1038\/s41598-020-67478-5","volume":"10","author":"L Langin","year":"2020","unstructured":"Langin L, Johnson TB, Kovacs AD, Pearce DA, Weimer JM. A tailored Cln3(Q352X) mouse model for testing therapeutic interventions in CLN3 Batten disease. Sci Rep. Jun 29 2020;10(1):10591. https:\/\/doi.org\/10.1038\/s41598-020-67478-5.","journal-title":"Sci Rep"},{"key":"9652_CR29","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.omtn.2023.05.025","volume":"33","author":"JL Centa","year":"2023","unstructured":"Centa JL, et al. Protracted CLN3 batten disease in mice that genetically model an exon-skipping therapeutic approach. Mol Ther. 2023;33:15\u201327. https:\/\/doi.org\/10.1016\/j.omtn.2023.05.025.","journal-title":"Mol Ther"},{"issue":"1-2","key":"9652_CR30","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/s0378-5955(02)00391-x","volume":"170","author":"KR Henry","year":"2002","unstructured":"Henry KR. Sex- and age-related elevation of cochlear nerve envelope response (CNER) and auditory brainstem response (ABR) thresholds in C57BL\/6 mice. Hear Res. 2002;170(1\u20132):107\u201315. https:\/\/doi.org\/10.1016\/s0378-5955(02)00391-x.","journal-title":"Hear Res"},{"issue":"3","key":"9652_CR31","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.bpsgos.2022.03.007","volume":"3","author":"FA Zinnamon","year":"2023","unstructured":"Zinnamon FA, Harrison FG, Wenas SS, Liu Q, Wang KH, Linden JF. Increased central auditory gain and decreased parvalbumin-positive cortical interneuron density in the Df1\/+ mouse model of schizophrenia correlate with hearing impairment. Biological Psychiatry Global Open Science. 2023;3(3):386\u201397. https:\/\/doi.org\/10.1016\/j.bpsgos.2022.03.007.","journal-title":"Biological Psychiatry Global Open Science"},{"issue":"1","key":"9652_CR32","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1177\/001316447303300111","volume":"33","author":"J Cohen","year":"1973","unstructured":"Cohen J. Eta-Squared and Partial Eta-Squared in Fixed Factor Anova Designs Educ Psychol Meas. 1973;33(1):107\u201312.","journal-title":"Educ Psychol Meas"},{"issue":"2","key":"9652_CR33","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/j.edurev.2010.12.001","volume":"6","author":"JTE Richardson","year":"2011","unstructured":"Richardson JTE. Eta squared and partial eta squared as measures of effect size in educational research. Educ Res Rev-Neth. 2011;6(2):135\u201347. https:\/\/doi.org\/10.1016\/j.edurev.2010.12.001.","journal-title":"Educ Res Rev-Neth"},{"key":"9652_CR34","doi-asserted-by":"publisher","first-page":"863","DOI":"10.3389\/fpsyg.2013.00863","volume":"4","author":"D Lakens","year":"2013","unstructured":"Lakens D. Calculating and reporting effect sizes to facilitate cumulative science: a practical primer for t-tests and ANOVAs. (in English) Front Psychol. Nov 26 2013;4:863. https:\/\/doi.org\/10.3389\/fpsyg.2013.00863.","journal-title":"(in English) Front Psychol"},{"issue":"3","key":"9652_CR35","first-page":"1007","volume":"67","author":"J Cohen","year":"1988","unstructured":"Cohen J. Statistical Power Analysis for the Behavioral-Sciences - Cohen,J Percept Motor Skill. Dec 1988;67(3):1007.","journal-title":"Percept Motor Skill"},{"key":"9652_CR36","unstructured":"Kim T, Shu H, Jia Q, de Leon MJ, Alzheimer\u2019s Disease I, Neuroimaging. DeepFDR: A Deep Learning-based False Discovery Rate Control Method for Neuroimaging Data, Proc Mach Learn Res, vol. 238, pp. 946\u2013954, May 2024. [Online]. Available: https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/38741695"},{"issue":"4","key":"9652_CR37","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1007\/s10162-007-0098-3","volume":"8","author":"JR Ison","year":"2007","unstructured":"Ison JR, Allen PD, O\u2019Neill WE. Age-related hearing loss in C57BL\/6J mice has both frequency-specific and non-frequency-specific components that produce a hyperacusis-like exaggeration of the acoustic startle reflex. J Assoc Res Otolaryngol. 2007;8(4):539\u201350. https:\/\/doi.org\/10.1007\/s10162-007-0098-3.","journal-title":"J Assoc Res Otolaryngol"},{"issue":"46","key":"9652_CR38","doi-asserted-by":"publisher","first-page":"19432","DOI":"10.1073\/pnas.0908786106","volume":"106","author":"S Someya","year":"2009","unstructured":"Someya S, et al. Age-related hearing loss in C57BL\/6J mice is mediated by Bak-dependent mitochondrial apoptosis. Proc Natl Acad Sci U S A. Nov 17 2009;106(46):19432\u20137. https:\/\/doi.org\/10.1073\/pnas.0908786106.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"9652_CR39","doi-asserted-by":"publisher","first-page":"7503","DOI":"10.1038\/s41598-019-43923-y","volume":"9","author":"E Jodo","year":"2019","unstructured":"Jodo E, et al. Neonatal exposure to an inflammatory cytokine, epidermal growth factor, results in the deficits of mismatch negativity in rats. Sci Rep.\u00a0May 16 2019;9(1):7503. https:\/\/doi.org\/10.1038\/s41598-019-43923-y.","journal-title":"Sci Rep"},{"issue":"3","key":"9652_CR40","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1038\/npp.2017.176","volume":"43","author":"M Lee","year":"2018","unstructured":"Lee M, Balla A, Sershen H, Sehatpour P, Lakatos P, Javitt DC. Rodent mismatch negativity\/theta neuro-oscillatory response as a translational neurophysiological biomarker for N-methyl-D-aspartate receptor-based new treatment development in schizophrenia. Neuropsychopharmacology. Feb2018;43(3):571\u201382. https:\/\/doi.org\/10.1038\/npp.2017.176.","journal-title":"Neuropsychopharmacology"},{"issue":"3","key":"9652_CR41","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.clinph.2008.11.029","volume":"120","author":"MI Garrido","year":"2009","unstructured":"Garrido MI, Kilner JM, Stephan KE, Friston KJ. The mismatch negativity: a review of underlying mechanisms. Clin Neurophysiol. 2009;120(3):453\u201363. https:\/\/doi.org\/10.1016\/j.clinph.2008.11.029.","journal-title":"Clin Neurophysiol"},{"issue":"4","key":"9652_CR42","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.oret.2019.11.005","volume":"4","author":"GA Wright","year":"2020","unstructured":"Wright GA, et al. Juvenile Batten disease (CLN3): detailed ocular phenotype, novel observations, delayed diagnosis, masquerades, and prospects for therapy. Ophthalmol Retina. 2020;4(4):433\u201345. https:\/\/doi.org\/10.1016\/j.oret.2019.11.005.","journal-title":"Ophthalmol Retina"},{"issue":"1","key":"9652_CR43","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1186\/s40478-019-0871-7","volume":"7","author":"G Gomez-Giro","year":"2019","unstructured":"Gomez-Giro G, et al. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis. Acta Neuropathol Commun. Dec 30 2019;7(1):222. https:\/\/doi.org\/10.1186\/s40478-019-0871-7.","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"9652_CR44","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-0994-8","volume":"14","author":"MJ Poppens","year":"2019","unstructured":"Poppens MJ, et al. Tracking sex-dependent differences in a mouse model of CLN6-Batten disease. Orphanet J Rare Dis. 2019;14(1):19. https:\/\/doi.org\/10.1186\/s13023-019-0994-8.","journal-title":"Orphanet J Rare Dis"},{"issue":"22","key":"9652_CR45","doi-asserted-by":"publisher","first-page":"2709","DOI":"10.1093\/hmg\/11.22.2709","volume":"11","author":"SL Cotman","year":"2002","unstructured":"Cotman SL, et al. Cln3(Deltaex7\/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. Oct 15 2002;11(22):2709\u201321. https:\/\/doi.org\/10.1093\/hmg\/11.22.2709.","journal-title":"Hum Mol Genet"},{"issue":"3","key":"9652_CR46","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1016\/j.nbd.2005.05.018","volume":"20","author":"CC Pontikis","year":"2005","unstructured":"Pontikis CC, Cotman SL, MacDonald ME, Cooper JD. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7\/8 knock-in mouse model of Batten disease. Neurobiol Dis. 2005;20(3):823\u201336. https:\/\/doi.org\/10.1016\/j.nbd.2005.05.018.","journal-title":"Neurobiol Dis"},{"key":"9652_CR47","doi-asserted-by":"publisher","unstructured":"Osorio NS et al. Neurodevelopmental delay in the Cln3Deltaex7\/8 mouse model for Batten disease, Genes Brain Behav, vol. 8, no. 3, pp. 337\u2009\u2013\u200945, Apr 2009, https:\/\/doi.org\/10.1111\/j.1601-183X.2009.00478.x","DOI":"10.1111\/j.1601-183X.2009.00478.x"},{"issue":"2","key":"9652_CR48","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.bbr.2005.02.024","volume":"161","author":"KD Wendt","year":"2005","unstructured":"Wendt KD, Lei B, Schachtman TR, Tullis GE, Ibe ME, Katz ML. Behavioral assessment in mouse models of neuronal ceroid lipofuscinosis using a light-cued T-maze. Behav Brain Res. 2005;161(2):175\u201382. https:\/\/doi.org\/10.1016\/j.bbr.2005.02.024.","journal-title":"Behav Brain Res"},{"key":"9652_CR49","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/978-1-4614-3209-8_63","volume":"801","author":"C Volz","year":"2014","unstructured":"Volz C, Mirza M, Langmann T, Jagle H. Retinal function in aging homozygous Cln3 (Deltaex7\/8) knock-in mice. Adv Exp Med Biol. 2014;801:495\u2013501. https:\/\/doi.org\/10.1007\/978-1-4614-3209-8_63.","journal-title":"Adv Exp Med Biol"},{"issue":"2","key":"9652_CR50","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1086\/514846","volume":"61","author":"PB Munroe","year":"1997","unstructured":"Munroe PB, et al. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet. 1997;61(2):310\u20136. https:\/\/doi.org\/10.1086\/514846.","journal-title":"Am J Hum Genet"},{"issue":"1\u20132","key":"9652_CR51","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.jneuroim.2010.08.024","volume":"230","author":"SS Seehafer","year":"2011","unstructured":"Seehafer SS, et al. Immunosuppression alters disease severity in juvenile Batten disease mice. J Neuroimmunol. Jan2011;230(1\u20132):169\u201372. https:\/\/doi.org\/10.1016\/j.jneuroim.2010.08.024.","journal-title":"J Neuroimmunol"},{"key":"9652_CR52","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/8904_2018_113","volume":"43","author":"EF Augustine","year":"2019","unstructured":"Augustine EF, et al. Short-Term administration of mycophenolate is Well-Tolerated in CLN3 disease (Juvenile neuronal ceroid Lipofuscinosis). JIMD Rep. 2019;43:117\u201324. https:\/\/doi.org\/10.1007\/8904_2018_113.","journal-title":"JIMD Rep"},{"issue":"9","key":"9652_CR53","doi-asserted-by":"publisher","first-page":"165553","DOI":"10.1016\/j.bbadis.2019.165553","volume":"1866","author":"V Kauss","year":"2020","unstructured":"Kauss V, Dambrova M, Medina DL. Pharmacological approaches to tackle NCLs. Biochim Biophys Acta Mol Basis Dis. 2020;1866(9):165553. https:\/\/doi.org\/10.1016\/j.bbadis.2019.165553.","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"9652_CR54","doi-asserted-by":"publisher","first-page":"14338","DOI":"10.1038\/ncomms14338","volume":"8","author":"M Palmieri","year":"2017","unstructured":"Palmieri M, et al. mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. Nat Commun. Feb 6 2017;8:14338. https:\/\/doi.org\/10.1038\/ncomms14338.","journal-title":"Nat Commun"},{"issue":"1","key":"9652_CR55","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-024-12790-7","volume":"272","author":"S Della Vecchia","year":"2025","unstructured":"Della Vecchia S, et al. Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses. J Neurol. 2025;272(1):94. https:\/\/doi.org\/10.1007\/s00415-024-12790-7.","journal-title":"J Neurol"},{"issue":"37","key":"9652_CR56","doi-asserted-by":"publisher","first-page":"9669","DOI":"10.1523\/JNEUROSCI.1635-16.2016","volume":"36","author":"ME Bosch","year":"2016","unstructured":"Bosch ME, et al. Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). J Neurosci.14\u00a0Sep 2016;36(37):9669\u201382. https:\/\/doi.org\/10.1523\/JNEUROSCI.1635-16.2016.","journal-title":"J Neurosci"},{"key":"9652_CR57","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1118649","volume":"14","author":"TB Johnson","year":"2023","unstructured":"Johnson TB, et al. Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease. Front Genet. 2023;14:1118649. https:\/\/doi.org\/10.3389\/fgene.2023.1118649.","journal-title":"Front Genet"},{"key":"9652_CR58","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.bbrc.2022.12.025","volume":"642","author":"T Iwanaga","year":"2023","unstructured":"Iwanaga T, et al. Miglustat, a glucosylceramide synthase inhibitor, mitigates liver fibrosis through TGF-beta\/Smad pathway suppression in hepatic stellate cells. Biochem Biophys Res Commun. 29 Jan 2023;642:192\u2013200. https:\/\/doi.org\/10.1016\/j.bbrc.2022.12.025.","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"9652_CR59","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0844-0","volume":"13","author":"M Pineda","year":"2018","unstructured":"Pineda M, Walterfang M, Patterson MC. Miglustat in Niemann-Pick disease type C patients: a review. Orphanet J Rare Dis. 2018;13(1):140. https:\/\/doi.org\/10.1186\/s13023-018-0844-0.","journal-title":"Orphanet J Rare Dis"},{"key":"9652_CR60","doi-asserted-by":"publisher","unstructured":"Mistry PK et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158, J Clin Med, vol. 12, no. 9, May 4 2023. https:\/\/doi.org\/10.3390\/jcm12093269","DOI":"10.3390\/jcm12093269"},{"key":"9652_CR61","doi-asserted-by":"publisher","unstructured":"Heins-Marroquin U, et al. CLN3 deficiency leads to neurological and metabolic perturbations during early development. Life Sci Alliance. Mar 2024;7(3). https:\/\/doi.org\/10.26508\/lsa.202302057.","DOI":"10.26508\/lsa.202302057"},{"issue":"7","key":"9652_CR62","doi-asserted-by":"publisher","first-page":"1354","DOI":"10.1016\/j.molcel.2024.02.006","volume":"84","author":"K Nyame","year":"2024","unstructured":"Nyame K, et al. Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. Mol Cell. Apr 4 2024;84(7):1354\u201364. https:\/\/doi.org\/10.1016\/j.molcel.2024.02.006.","journal-title":"Mol Cell"},{"issue":"4","key":"9652_CR63","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1111\/febs.12699","volume":"281","author":"D Corda","year":"2014","unstructured":"Corda D, Mosca MG, Ohshima N, Grauso L, Yanaka N, Mariggio S. The emerging physiological roles of the glycerophosphodiesterase family. FEBS J. Feb 2014;281(4):998\u20131016. https:\/\/doi.org\/10.1111\/febs.12699.","journal-title":"FEBS J"},{"key":"9652_CR64","doi-asserted-by":"publisher","first-page":"117727192211077","DOI":"10.1177\/11772719221107765","volume":"17","author":"JJ Brudvig","year":"2022","unstructured":"Brudvig JJ, et al. Glycerophosphoinositol is elevated in blood samples from CLN3 (Deltaex7-8) pigs, Cln3 (Deltaex7-8) mice, and CLN3-Affected individuals. Biomark Insights. 2022;17:11772719221107765. https:\/\/doi.org\/10.1177\/11772719221107765.","journal-title":"Biomark Insights"},{"issue":"7929","key":"9652_CR65","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1038\/s41586-022-05221-y","volume":"609","author":"NN Laqtom","year":"2022","unstructured":"Laqtom NN, et al. CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. Nature. 2022;609(7929):1005\u201311. https:\/\/doi.org\/10.1038\/s41586-022-05221-y.","journal-title":"Nature"},{"issue":"1","key":"9652_CR66","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-025-02010-1","volume":"15","author":"JB Singh","year":"2025","unstructured":"Singh JB, et al. CLN3 disease disrupts very early postnatal hippocampal maturation. Sci Rep. 2025;15(1):24411. https:\/\/doi.org\/10.1038\/s41598-025-02010-1.","journal-title":"Sci Rep"},{"issue":"1","key":"9652_CR67","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/s41398-019-0463-0","volume":"9","author":"T Brima","year":"2019","unstructured":"Brima T, et al. Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome. Transl Psychiatry.\u00a0Apr 9 2019;9(1):130. https:\/\/doi.org\/10.1038\/s41398-019-0463-0.","journal-title":"Transl Psychiatry"},{"issue":"1","key":"9652_CR68","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/s41398-020-0764-3","volume":"10","author":"AA Francisco","year":"2020","unstructured":"Francisco AA, Foxe JJ, Horsthuis DJ, DeMaio D, Molholm S. Assessing auditory processing endophenotypes associated with Schizophrenia in individuals with 22q11.2 deletion syndrome. Transl Psychiatry. Mar 5 2020;10(1):85. https:\/\/doi.org\/10.1038\/s41398-020-0764-3.","journal-title":"Transl Psychiatry"},{"key":"9652_CR69","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2020.102170","volume":"25","author":"AA Francisco","year":"2020","unstructured":"Francisco AA, Foxe JJ, Horsthuis DJ, Molholm S. Impaired auditory sensory memory in cystinosis despite typical sensory processing: a high-density electrical mapping study of the mismatch negativity (MMN). NeuroImage: Clinical. 2020;25:102170. https:\/\/doi.org\/10.1016\/j.nicl.2020.102170.","journal-title":"NeuroImage: Clinical"},{"key":"9652_CR70","doi-asserted-by":"publisher","unstructured":"Francisco AA, Berruti AS, Kaskel FJ, Foxe JJ, Molholm S. Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations). Orphanet J Rare Dis. Apr 13 2021;16(1):177. https:\/\/doi.org\/10.1186\/s13023-021-01818-0.","DOI":"10.1186\/s13023-021-01818-0"},{"issue":"1","key":"9652_CR71","doi-asserted-by":"publisher","first-page":"Unit 6 25","DOI":"10.1002\/0471142301.ns0625s52","volume":"Chapter 6","author":"GA Light","year":"2010","unstructured":"Light GA, et al. Electroencephalography (EEG) and event-related potentials (ERPs) with human participants. Curr Protoc Neurosci. Jul2010;Chapter 6(1):Unit 6 25-24. https:\/\/doi.org\/10.1002\/0471142301.ns0625s52.","journal-title":"Curr Protoc Neurosci"},{"key":"9652_CR72","doi-asserted-by":"publisher","unstructured":"Lakatos P et al. The Thalamocortical Circuit of Auditory Mismatch Negativity, Biol Psychiatry, vol. 87, no. 8, pp. 770\u2013780, Apr 15 2020. https:\/\/doi.org\/10.1016\/j.biopsych.2019.10.029","DOI":"10.1016\/j.biopsych.2019.10.029"}],"container-title":["Journal of Neurodevelopmental Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-025-09652-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s11689-025-09652-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s11689-025-09652-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T07:42:36Z","timestamp":1762414956000},"score":1,"resource":{"primary":{"URL":"https:\/\/jneurodevdisorders.biomedcentral.com\/articles\/10.1186\/s11689-025-09652-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,6]]},"references-count":72,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["9652"],"URL":"https:\/\/doi.org\/10.1186\/s11689-025-09652-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2025.03.18.643722","asserted-by":"object"}]},"ISSN":["1866-1955"],"issn-type":[{"value":"1866-1955","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,6]]},"assertion":[{"value":"14 May 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Experiments were conducted in accordance with ethical standards for the care and use of animals of the University Committee on Animal Resource (UCAR) at the University of Rochester Medical Center (URMC, NY).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors are consent for publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing financial interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Competing interests"}}],"article-number":"67"}}