{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:59:16Z","timestamp":1789498756104,"version":"build-2803163510"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC5X1000"],"award-info":[{"award-number":["RC5X1000"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,1]]},"DOI":"10.1007\/s00415-024-12790-7","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T06:14:42Z","timestamp":1736230482000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses"],"prefix":"10.1007","volume":"272","author":[{"given":"Stefania","family":"Della Vecchia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Gammaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Ricca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Mero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Doccini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Ardissone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Bagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Battini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Colombi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacopo","family":"Favaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Furlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assunta","family":"Ingannato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Mandelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Maria Paola","family":"Manzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Milito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedetta","family":"Nacmias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Parmeggiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Pezzini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Pietrafusa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Sartori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Trivisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.-N. C. L.","family":"ETS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Simonati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The A-NCL ETS Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Bisceglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Spera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mara","family":"Piccinato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirco","family":"Tovani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Bottari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"12790_CR1","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/j.gene.2016.08.031","volume":"593","author":"DE Sleat","year":"2016","unstructured":"Sleat DE, Gedvilaite E, Zhang Y, Lobel P, Xing J (2016) Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis. Gene 593:284\u2013291. https:\/\/doi.org\/10.1016\/j.gene.2016.08.031","journal-title":"Gene"},{"key":"12790_CR2","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 (2013) Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol 28:1101\u20131105. https:\/\/doi.org\/10.1177\/0883073813494268","journal-title":"J Child Neurol"},{"key":"12790_CR3","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/S2352-4642(18)30179-2","volume":"2","author":"M Nickel","year":"2018","unstructured":"Nickel M, Simonati A, Jacoby D et al (2018) (2018) Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study [published correction appears in Lancet Child Adolesc Health 2:e24]. Lancet Child Adolesc Health 2:582\u2013590. https:\/\/doi.org\/10.1016\/S2352-4642(18)30179-2","journal-title":"Lancet Child Adolesc Health"},{"key":"12790_CR4","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1111\/dmcn.13473","volume":"59","author":"A Simonati","year":"2017","unstructured":"Simonati A, Williams RE, Nardocci N et al (2017) Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol 59:815\u2013821. https:\/\/doi.org\/10.1111\/dmcn.13473","journal-title":"Dev Med Child Neurol"},{"key":"12790_CR5","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.pediatrneurol.2024.02.010","volume":"154","author":"M O'Neal","year":"2024","unstructured":"O\u2019Neal M, Noher de Halac I, Aylward SC et al (2024) Natural history of neuronal ceroid lipofuscinosis type 6, late infantile disease. Pediatr Neurol 154:51\u201357. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2024.02.010","journal-title":"Pediatr Neurol"},{"key":"12790_CR6","doi-asserted-by":"publisher","first-page":"e2436","DOI":"10.1212\/WNL.0000000000009454","volume":"94","author":"MC Masten","year":"2020","unstructured":"Masten MC, Williams JD, Vermilion J et al (2020) The Batten Disease Staging System: a new tool for clinical research in Batten disease. Neurology 94:e2436\u2013e2440","journal-title":"Neurology"},{"key":"12790_CR7","doi-asserted-by":"publisher","unstructured":"Palmieri M, Pal R, Nelvagal HR, et al. (2017) Corrigendum: mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases, Nat Commun 8:15793, https:\/\/doi.org\/10.1038\/ncomms15793","DOI":"10.1038\/ncomms15793"},{"key":"12790_CR8","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.812728","volume":"10","author":"WD Kim","year":"2022","unstructured":"Kim WD, Wilson-Smillie MLDM, Thanabalasingam A, Lefrancois S, Cotman SL, Huber RJ (2022) Autophagy in the neuronal ceroid lipofuscinoses (Batten disease). Front Cell Dev Biol 10:812728. https:\/\/doi.org\/10.3389\/fcell.2022.812728","journal-title":"Front Cell Dev Biol"},{"key":"12790_CR9","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","volume":"378","author":"A Schulz","year":"2018","unstructured":"Schulz A, Ajayi T, Specchio N et al (2018) Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med 378:1898\u20131907. https:\/\/doi.org\/10.1056\/NEJMoa1712649","journal-title":"N Engl J Med"},{"key":"12790_CR10","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s13023-016-0414-2","volume":"11","author":"RD Geraets","year":"2016","unstructured":"Geraets RD, Sy K, Hastings ML, Kielian T, Pearce DA, Weimer JM (2016) Moving towards effective therapeutic strategies for neuronal ceroid lipofuscinosis. Orphanet J Rare Dis 11:40. https:\/\/doi.org\/10.1186\/s13023-016-0414-2","journal-title":"Orphanet J Rare Dis"},{"key":"12790_CR11","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/S1474-4422(18)30368-5","volume":"18","author":"SE Mole","year":"2019","unstructured":"Mole SE, Anderson G, Band HA et al (2019) Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. Lancet Neurol 18:107\u2013116. https:\/\/doi.org\/10.1016\/S1474-4422(18)30368-5","journal-title":"Lancet Neurol"},{"key":"12790_CR12","doi-asserted-by":"publisher","unstructured":"Groh J, Berve K, Martini R (2021) Immune modulation attenuates infantile neuronal ceroid lipofuscinosis in mice before and after disease onset. Brain Commun 3:fcab047, https:\/\/doi.org\/10.1093\/braincomms\/fcab047","DOI":"10.1093\/braincomms\/fcab047"},{"key":"12790_CR13","doi-asserted-by":"publisher","first-page":"4415","DOI":"10.1021\/acs.jmedchem.5b01020","volume":"59","author":"N Kinarivala","year":"2016","unstructured":"Kinarivala N, Trippier PC (2016) Progress in the development of small molecule therapeutics for the treatment of neuronal ceroid lipofuscinoses (NCLs). J Med Chem 59:4415\u20134427. https:\/\/doi.org\/10.1021\/acs.jmedchem.5b01020","journal-title":"J Med Chem"},{"key":"12790_CR14","doi-asserted-by":"publisher","first-page":"1840","DOI":"10.3390\/cells11111840","volume":"11","author":"S Doccini","year":"2022","unstructured":"Doccini S, Marchese M, Morani F et al (2022) Lysosomal proteomics links disturbances in lipid homeostasis and sphingolipid metabolism to CLN5 disease. Cells 11:1840. https:\/\/doi.org\/10.3390\/cells11111840","journal-title":"Cells"},{"key":"12790_CR15","doi-asserted-by":"publisher","first-page":"867","DOI":"10.2174\/138920111795542633","volume":"12","author":"R Kohan","year":"2011","unstructured":"Kohan R, Cismondi IA, Oller-Ramirez AM et al (2011) Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. Curr Pharm Biotechnol 12:867\u2013883. https:\/\/doi.org\/10.2174\/138920111795542633","journal-title":"Curr Pharm Biotechnol"},{"key":"12790_CR16","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1080\/21678707.2019.1684258","volume":"7","author":"JB Rosenberg","year":"2019","unstructured":"Rosenberg JB, Chen A, Kaminsky SM, Crystal RG, Sondhi D (2019) Advances in the treatment of neuronal ceroid lipofuscinosis. Expert Opin Orphan Drugs 7:473\u2013500. https:\/\/doi.org\/10.1080\/21678707.2019.1684258","journal-title":"Expert Opin Orphan Drugs"},{"key":"12790_CR17","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1080\/13543784.2020.1837110","volume":"29","author":"MC Masten","year":"2020","unstructured":"Masten MC, Mink JW, Augustine EF (2020) Batten disease: an expert update on agents in preclinical and clinical trials. Expert Opin Investig Drugs 29:1317\u20131322. https:\/\/doi.org\/10.1080\/13543784.2020.1837110","journal-title":"Expert Opin Investig Drugs"},{"key":"12790_CR18","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1038\/s41419-018-0749-9","volume":"9","author":"HJ Lee","year":"2018","unstructured":"Lee HJ, Yoon YS, Lee SJ (2018) Mechanism of neuroprotection by trehalose: controversy surrounding autophagy induction. Cell Death Dis 9:712. https:\/\/doi.org\/10.1038\/s41419-018-0749-9","journal-title":"Cell Death Dis"},{"key":"12790_CR19","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1126\/science.1174447","volume":"325","author":"M Sardiello","year":"2009","unstructured":"Sardiello M, Palmieri M, di Ronza A et al (2009) A gene network regulating lysosomal biogenesis and function. Science 325:473\u2013477. https:\/\/doi.org\/10.1126\/science.1174447","journal-title":"Science"},{"key":"12790_CR20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/nyas.13131","volume":"1371","author":"M Sardiello","year":"2016","unstructured":"Sardiello M (2016) Transcription factor EB: from master coordinator of lysosomal pathways to candidate therapeutic target in degenerative storage diseases. Ann N Y Acad Sci 1371:3\u201314. https:\/\/doi.org\/10.1111\/nyas.13131","journal-title":"Ann N Y Acad Sci"},{"key":"12790_CR21","doi-asserted-by":"publisher","first-page":"28423","DOI":"10.1038\/srep28423","volume":"6","author":"X Chen","year":"2016","unstructured":"Chen X, Li M, Li L et al (2016) Trehalose, sucrose and raffinose are novel activators of autophagy in human keratinocytes through an mTOR-independent pathway. Sci Rep 6:28423. https:\/\/doi.org\/10.1038\/srep28423","journal-title":"Sci Rep"},{"key":"12790_CR22","doi-asserted-by":"publisher","first-page":"6874","DOI":"10.3390\/ijms23126874","volume":"23","author":"S Della Vecchia","year":"2022","unstructured":"Della Vecchia S, Ogi A, Licitra R et al (2022) Trehalose treatment in zebrafish model of Lafora disease. Int J Mol Sci 23:6874. https:\/\/doi.org\/10.3390\/ijms23126874","journal-title":"Int J Mol Sci"},{"key":"12790_CR23","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.4103\/1673-5374.360164","volume":"18","author":"KH Yap","year":"2023","unstructured":"Yap KH, Azmin S, Makpol S et al (2023) Profiling neuroprotective potential of trehalose in animal models of neurodegenerative diseases: a systematic review. Neural Regen Res 18:1179\u20131185. https:\/\/doi.org\/10.4103\/1673-5374.360164","journal-title":"Neural Regen Res"},{"key":"12790_CR24","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1007\/s12035-020-02170-3","volume":"58","author":"P Sinha","year":"2021","unstructured":"Sinha P, Verma B, Ganesh S (2021) Trehalose ameliorates seizure susceptibility in Lafora disease mouse models by suppressing neuroinflammation and endoplasmic reticulum stress. Mol Neurobiol 58:1088\u20131101. https:\/\/doi.org\/10.1007\/s12035-020-02170-3","journal-title":"Mol Neurobiol"},{"key":"12790_CR25","doi-asserted-by":"publisher","first-page":"1419","DOI":"10.1080\/15548627.2018.1474313","volume":"14","author":"P Lotfi","year":"2018","unstructured":"Lotfi P, Tse DY, Di Ronza A et al (2018) Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency. Autophagy 14:1419\u20131434. https:\/\/doi.org\/10.1080\/15548627.2018.1474313","journal-title":"Autophagy"},{"key":"12790_CR26","doi-asserted-by":"publisher","first-page":"247","DOI":"10.3390\/jcm11010247","volume":"11","author":"M Mobini","year":"2022","unstructured":"Mobini M, Radbakhsh S, Kubaski F et al (2022) Impact of intravenous trehalose administration in patients with niemann-pick disease types A and B. J Clin Med 11:247. https:\/\/doi.org\/10.3390\/jcm11010247","journal-title":"J Clin Med"},{"key":"12790_CR27","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1212\/01.wnl.0000169019.41332.8a","volume":"65","author":"FJ Marshall","year":"2005","unstructured":"Marshall FJ, de Blieck EA, Mink JW et al (2005) A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology 65:275\u2013279. https:\/\/doi.org\/10.1212\/01.wnl.0000169019.41332.8a","journal-title":"Neurology"},{"key":"12790_CR28","doi-asserted-by":"publisher","unstructured":"Iwan K, Patel N, Heslegrave A, et al. (2021) Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment, 10: 614, https:\/\/doi.org\/10.12688\/f1000research.54556.2","DOI":"10.12688\/f1000research.54556.2"},{"key":"12790_CR29","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1038\/s41436-020-01035-3","volume":"23","author":"AN Dang Do","year":"2021","unstructured":"Dang Do AN, Sinaii N, Masvekar RR et al (2021) Neurofilament light chain levels correlate with clinical measures in CLN3 disease. Genet Med 23:751\u2013757. https:\/\/doi.org\/10.1038\/s41436-020-01035-3","journal-title":"Genet Med"},{"key":"12790_CR30","doi-asserted-by":"publisher","first-page":"3787","DOI":"10.1021\/acs.jproteome.7b00460","volume":"16","author":"DE Sleat","year":"2017","unstructured":"Sleat DE, Tannous A, Sohar I et al (2017) Proteomic analysis of brain and cerebrospinal fluid from the three major forms of neuronal ceroid lipofuscinosis reveals potential biomarkers. J Proteome Res 16:3787\u20133804. https:\/\/doi.org\/10.1021\/acs.jproteome.7b00460","journal-title":"J Proteome Res"},{"key":"12790_CR31","doi-asserted-by":"publisher","first-page":"175909141984339","DOI":"10.1177\/1759091419843393","volume":"11","author":"MS Domowicz","year":"2019","unstructured":"Domowicz MS, Chan WC, Claudio-V\u00e1zquez P et al (2019) Global brain transcriptome analysis of a Tpp1 neuronal ceroid lipofuscinoses mouse model. ASN Neuro 11:1759091419843393. https:\/\/doi.org\/10.1177\/1759091419843393","journal-title":"ASN Neuro"},{"key":"12790_CR32","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2023.106349","volume":"189","author":"N Gammaldi","year":"2023","unstructured":"Gammaldi N, Pezzini F, Michelucci E et al (2023) Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses. Neurobiol Dis 189:106349. https:\/\/doi.org\/10.1016\/j.nbd.2023.106349","journal-title":"Neurobiol Dis"},{"key":"12790_CR33","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/s10048-023-00739-3","volume":"25","author":"N Gammaldi","year":"2024","unstructured":"Gammaldi N, Doccini S, Bernardi S et al (2024) Dem-Aging: autophagy-related pathologies and the \u201ctwo faces of dementia.\u201d Neurogenetics 25:39\u201346. https:\/\/doi.org\/10.1007\/s10048-023-00739-3","journal-title":"Neurogenetics"},{"key":"12790_CR34","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1002\/ajmg.10660","volume":"112","author":"R Steinfeld","year":"2002","unstructured":"Steinfeld R, Heim P, von Gregory H et al (2002) Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112:347\u2013354. https:\/\/doi.org\/10.1002\/ajmg.10660","journal-title":"Am J Med Genet"},{"key":"12790_CR35","doi-asserted-by":"publisher","first-page":"2102","DOI":"10.1002\/ejhf.1674","volume":"22","author":"MF Hoes","year":"2020","unstructured":"Hoes MF, Tromp J, Ouwerkerk W et al (2020) The role of cathepsin D in the pathophysiology of heart failure and its potentially beneficial properties: a translational approach. Eur J Heart Fail 22:2102\u20132111. https:\/\/doi.org\/10.1002\/ejhf.1674","journal-title":"Eur J Heart Fail"},{"key":"12790_CR36","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1111\/ene.14500","volume":"28","author":"Y Ozawa","year":"2021","unstructured":"Ozawa Y, Uzawa A, Yasuda M et al (2021) Changes in serum complements and their regulators in generalized myasthenia gravis. Eur J Neurol 28:314\u2013322. https:\/\/doi.org\/10.1111\/ene.14500","journal-title":"Eur J Neurol"},{"key":"12790_CR37","doi-asserted-by":"publisher","first-page":"5217","DOI":"10.1038\/s41598-023-32480-0","volume":"13","author":"P Youssef","year":"2023","unstructured":"Youssef P, Hughes L, Kim WS et al (2023) Evaluation of plasma levels of NFL, GFAP, UCHL1 and tau as Parkinson\u2019s disease biomarkers using multiplexed single molecule counting. Sci Rep 13:5217. https:\/\/doi.org\/10.1038\/s41598-023-32480-0","journal-title":"Sci Rep"},{"key":"12790_CR38","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.parkreldis.2019.12.007","volume":"70","author":"MA Noorasyikin","year":"2020","unstructured":"Noorasyikin MA, Azizan EA, Teh PC et al (2020) Oral trehalose maybe helpful for patients with spinocerebellar ataxia 3 and should be better evaluated. Parkinsonism Relat Disord 70:42\u201344. https:\/\/doi.org\/10.1016\/j.parkreldis.2019.12.007","journal-title":"Parkinsonism Relat Disord"},{"key":"12790_CR39","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1007\/s12311-020-01150-6","volume":"19","author":"R Zaltzman","year":"2020","unstructured":"Zaltzman R, Elyoseph Z, Lev N, Gordon CR (2020) Trehalose in Machado-Joseph disease: safety, tolerability, and efficacy. Cerebellum 19:672\u2013679. https:\/\/doi.org\/10.1007\/s12311-020-01150-6","journal-title":"Cerebellum"},{"key":"12790_CR40","doi-asserted-by":"publisher","first-page":"4270","DOI":"10.1007\/s00415-022-11055-5","volume":"269","author":"G Giacomucci","year":"2022","unstructured":"Giacomucci G, Mazzeo S, Bagnoli S et al (2022) Plasma neurofilament light chain as a biomarker of Alzheimer\u2019s disease in subjective cognitive decline and mild cognitive impairment. J Neurol 269:4270\u20134280. https:\/\/doi.org\/10.1007\/s00415-022-11055-5","journal-title":"J Neurol"},{"key":"12790_CR41","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1042\/BJ20100128","volume":"428","author":"S Xu","year":"2010","unstructured":"Xu S, Sleat DE, Jadot M, Lobel P (2010) Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material. Biochem J 428:355\u2013362. https:\/\/doi.org\/10.1042\/BJ20100128","journal-title":"Biochem J"},{"key":"12790_CR42","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.886567","volume":"13","author":"K Takahashi","year":"2022","unstructured":"Takahashi K, Nelvagal HR, Lange J, Cooper JD (2022) Glial dysfunction and its contribution to the pathogenesis of the neuronal ceroid lipofuscinoses. Front Neurol 13:886567. https:\/\/doi.org\/10.3389\/fneur.2022.886567","journal-title":"Front Neurol"},{"key":"12790_CR43","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1016\/j.tibs.2021.01.005","volume":"46","author":"S Satapathy","year":"2021","unstructured":"Satapathy S, Wilson MR (2021) The dual roles of clusterin in extracellular and intracellular proteostasis. Trends Biochem Sci 46:652\u2013660. https:\/\/doi.org\/10.1016\/j.tibs.2021.01.005","journal-title":"Trends Biochem Sci"},{"key":"12790_CR44","doi-asserted-by":"publisher","unstructured":"Rodr\u00edguez-Rivera C, Garcia MM, Molina-\u00c1lvarez M, Gonz\u00e1lez-Mart\u00edn C, Goicoechea C. (2021) Clusterin: always protecting. Synthesis, function and potential issues. Biomed Pharmacother 134: 111174, https:\/\/doi.org\/10.1016\/j.biopha.2020.111174","DOI":"10.1016\/j.biopha.2020.111174"},{"key":"12790_CR45","doi-asserted-by":"publisher","first-page":"1911","DOI":"10.1007\/s00234-022-03039-z","volume":"64","author":"JN Hochstein","year":"2022","unstructured":"Hochstein JN, Schulz A, Nickel M et al (2022) Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker. Neuroradiology 64:1911\u20131912. https:\/\/doi.org\/10.1007\/s00234-022-03039-z","journal-title":"Neuroradiology"},{"key":"12790_CR46","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1016\/s0278-6915(02)00011-x","volume":"40","author":"AB Richards","year":"2002","unstructured":"Richards AB, Krakowka S, Dexter LB et al (2002) Trehalose: a review of properties, history of use and human tolerance, and results of multiple safety studies. Food Chem Toxicol 40:871\u2013898. https:\/\/doi.org\/10.1016\/s0278-6915(02)00011-x","journal-title":"Food Chem Toxicol"}],"updated-by":[{"DOI":"10.1007\/s00415-025-13358-9","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000}}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12790-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12790-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12790-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T11:53:19Z","timestamp":1760529199000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12790-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["12790"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12790-7","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s00415-025-13358-9","asserted-by":"object"}]},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"28 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 September 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 October 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 October 2025","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1007\/s00415-025-13358-9","URL":"https:\/\/doi.org\/10.1007\/s00415-025-13358-9","order":8,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the Tuscany Region Ethics Committee. The patient gave informed consent for diagnostic testing and research studies. The study was conducted in accordance with the Helsinki Declaration of 1964, as revised in October 2013 in Fortaleza, Brazil.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"94"}}