{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T08:03:00Z","timestamp":1774080180320,"version":"3.50.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T00:00:00Z","timestamp":1771632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T00:00:00Z","timestamp":1771632000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurol Sci"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1007\/s10072-026-08910-y","type":"journal-article","created":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T00:19:00Z","timestamp":1771633140000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Wilson\u2019s disease: does a neuropsychiatric phenotype without liver involvement truly exist?"],"prefix":"10.1007","volume":"47","author":[{"given":"Agnieszka","family":"Antos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Przyby\u0142kowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Bembenek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"P\u0119czu\u0142a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cz\u0142onkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2670-9651","authenticated-orcid":false,"given":"Tomasz","family":"Litwin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,2,21]]},"reference":[{"issue":"24","key":"8910_CR1","first-page":"02706","volume":"S0168\u20138278","author":"European Association for the Study of the Liver","year":"2025","unstructured":"European Association for the Study of the Liver (2025) EASL-ERN clinical practice guidelines on Wilson\u2019s disease. J Hepatol S0168\u20138278(24):02706\u201302705","journal-title":"J Hepatol"},{"key":"8910_CR2","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.ncl.2014.09.006","volume":"33","author":"P Du\u0161ek","year":"2015","unstructured":"Du\u0161ek P, Litwin T, Cz\u0142onkowska A (2015) Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin 33:175\u2013204","journal-title":"Neurol Clin"},{"key":"8910_CR3","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1093\/brain\/34.4.295","volume":"34","author":"SA Wilson","year":"1912","unstructured":"Wilson SA (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34:20\u2013509","journal-title":"Brain"},{"key":"8910_CR4","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/s41572-018-0018-3","volume":"4","author":"A Cz\u0142onkowska","year":"2018","unstructured":"Cz\u0142onkowska A, Litwin T, Du\u0161ek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML (2018) Wilson disease. Nat Rev Dis Primers 4:21","journal-title":"Nat Rev Dis Primers"},{"key":"8910_CR5","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1016\/j.cgh.2013.09.025","volume":"12","author":"S Beinhardt","year":"2014","unstructured":"Beinhardt S, Leiss W, Stattermayer AF, Graziadei I, Zoller H, Stauber R, Maieron A, Datz C, Steindl-Munda P, Hofer H, Vogel W, Trauner M, Ferenci P (2014) Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol 12:683\u2013689","journal-title":"Clin Gastroenterol Hepatol"},{"key":"8910_CR6","doi-asserted-by":"publisher","first-page":"3492","DOI":"10.1007\/s00415-023-11681-7","volume":"270","author":"I Stankovic","year":"2023","unstructured":"Stankovic I, Jovanovic C, Vitkovic J, Svetel M, Pekmezovic T, Tomic A, Kresojevic N, Markovic V, Lukic MJ, Petrovic I, Dragasevic-Miskovic N, Kostic V (2023) Long-term outcome of patients with neurological form of Wilson\u2019s disease compliant to the de-coppering treatment. J Neurol 270:3492\u20133498","journal-title":"J Neurol"},{"key":"8910_CR7","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1002\/ueg2.12452","volume":"11","author":"F \u00c5berg","year":"2023","unstructured":"\u00c5berg F, Shang Y, Strandberg R, Wester A, Widman L, Hagstr\u00f6m H (2023) Four-fold increased mortality rate in patients with Wilson\u2019s disease: a population-based cohort study of 151 patients. United Eur Gastroenterol J 11:852\u2013860","journal-title":"United Eur Gastroenterol J"},{"key":"8910_CR8","doi-asserted-by":"publisher","first-page":"3829","DOI":"10.1007\/s10072-020-05013-0","volume":"42","author":"B Samanci","year":"2021","unstructured":"Samanci B, Sahin E, Bilgic B, Tufekcioglu Z, Gurvit H, Emre M, Demir K, Hanagasi HA (2021) Neurological features and outcomes of Wilson\u2019s disease: a single-center experience. Neurol Sci 42:3829\u20133834","journal-title":"Neurol Sci"},{"key":"8910_CR9","doi-asserted-by":"publisher","first-page":"161","DOI":"10.5114\/ninp.2013.34397","volume":"47","author":"T Litwin","year":"2013","unstructured":"Litwin T, Cz\u0142onkowska A (2013) Wilson disease \u2013 factors affecting clinical presentation. Neurol Neurochir Pol 47:161\u2013169","journal-title":"Neurol Neurochir Pol"},{"key":"8910_CR10","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1034\/j.1600-0676.2003.00824.x","volume":"23","author":"P Ferenci","year":"2003","unstructured":"Ferenci P, Caca K, Loudianos G, Mieli-Vergani G (2003) Diagnosis and phenotypic classification of Wilson disease. Liver Int 23:139\u2013142","journal-title":"Liver Int"},{"key":"8910_CR11","doi-asserted-by":"publisher","first-page":"e259598","DOI":"10.1136\/bcr-2023-259598","volume":"17","author":"N Kumar","year":"2024","unstructured":"Kumar N, Mishra R, Rohatgi A, Bargali A (2024) Neurological Wilson\u2019s disease without hepatic involvement in an adolescent female. BMJ Case Rep 17:e259598","journal-title":"BMJ Case Rep"},{"key":"8910_CR12","doi-asserted-by":"publisher","first-page":"300060525132857","DOI":"10.1177\/03000605251328574","volume":"53","author":"A Qatza","year":"2025","unstructured":"Qatza A, Almohamed A, Alassaad R, Karaja S, Hamsho G, Alassad G (2025) Isolated neurological symptoms of Wilson\u2019s disease manifesting as focal epileptic seizures without hepatic involvement. J Int Med Res 53:3000605251328574","journal-title":"J Int Med Res"},{"key":"8910_CR13","doi-asserted-by":"publisher","first-page":"e70865","DOI":"10.1002\/ccr3.70865","volume":"13","author":"AA Shahatta","year":"2025","unstructured":"Shahatta AA, Shlaka SG, Al-Badri SG, Al-Shammari AS, Naeem K, Ali AS, Rizgar H, Al-Fatlawi N, Alogaili M, Babiker S, Sayed H (2025) Isolated stiffness as a predominant manifestation of Wilson disease. Clin Case Rep 13:e70865","journal-title":"Clin Case Rep"},{"key":"8910_CR14","doi-asserted-by":"publisher","first-page":"e15646","DOI":"10.1111\/ene.15646","volume":"31","author":"A Cz\u0142onkowska","year":"2024","unstructured":"Cz\u0142onkowska A, Niewada M, Litwin T, Krai\u0144ski \u0141, Skowro\u0144ska M, Piechal A, Antos A, Misztal M, Khanna I, Kurkowska-Jastrz\u0119bska I (2024) Seven decades of clinical experience with Wilson\u2019s disease. Eur J Neurol 31:e15646","journal-title":"Eur J Neurol"},{"key":"8910_CR15","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/S1542-3565(05)00181-3","volume":"3","author":"P Ferenci","year":"2005","unstructured":"Ferenci P, Steindl-Munda P, Vogel W, Jessner W, Gschwantler M, Stauber R, Datz C, Hackl F, Wrba F, Bauer P, Lorenz O (2005) Diagnostic value of quantitative hepatic copper determination in patients with Wilson\u2019s disease. Clin Gastroenterol Hepatol 3:811\u2013818","journal-title":"Clin Gastroenterol Hepatol"},{"key":"8910_CR16","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/S0016-5085(97)70097-0","volume":"113","author":"P Steindl","year":"1997","unstructured":"Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, Maier-Dobersberger T, Herneth A, Dragosics B, Meryn S, Knoflach P, Granditsch G, Gangl A (1997) Wilson\u2019s disease in patients presenting with liver disease. Gastroenterology 113:212\u2013218","journal-title":"Gastroenterology"},{"key":"8910_CR17","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/BF00319740","volume":"238","author":"W Oder","year":"1991","unstructured":"Oder W, Grimm G, Kollegger H, Ferenci P, Schneider B, Deecke L (1991) Neurological and neuropsychiatric spectrum of Wilson\u2019s disease. J Neurol 238:281\u2013287","journal-title":"J Neurol"},{"key":"8910_CR18","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1136\/gut.46.3.415","volume":"46","author":"PJ Gow","year":"2000","unstructured":"Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB (2000) Diagnosis of Wilson\u2019s disease: an experience over three decades. Gut 46:415\u2013419","journal-title":"Gut"},{"key":"8910_CR19","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1053\/j.gastro.2007.02.057","volume":"132","author":"P Ferenci","year":"2007","unstructured":"Ferenci P, Cz\u0142onkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, Vogel W, Bruha R, Schmidt HT, Stremmel W (2007) Late-onset Wilson\u2019s disease. Gastroenterology 132:1294\u20131298","journal-title":"Gastroenterology"},{"key":"8910_CR20","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1002\/hep.32805","volume":"77","author":"ML Schilsky","year":"2023","unstructured":"Schilsky ML, Roberts EA, Bronstein JM, Dhawan A, Hamilton JP, Rivard AM, Washington MK, Weiss KH, Zimbrean PC (2023) A multidisciplinary approach to the diagnosis and management of Wilson disease. Hepatology 77:1428\u20131455","journal-title":"Hepatology"},{"key":"8910_CR21","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1212\/WNL.43.1_Part_1.120","volume":"43","author":"W Oder","year":"1993","unstructured":"Oder W, Prayer L, Grimm G, Spatt J, Ferenci P, Kollegger H, Schneider B, Gangl A, Deecke L (1993) Wilson\u2019s disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology 43:120\u2013124","journal-title":"Neurology"},{"issue":"4","key":"8910_CR22","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1097\/PAP.0b013e31825c6bab","volume":"19","author":"C Ma","year":"2012","unstructured":"Ma C, Brunt EM (2012) Histopathologic evaluation of liver biopsy for cirrhosis. Adv Anat Pathol 19(4):220\u2013230","journal-title":"Adv Anat Pathol"},{"key":"8910_CR23","doi-asserted-by":"publisher","first-page":"1860","DOI":"10.1111\/liv.13715","volume":"38","author":"A Cz\u0142onkowska","year":"2018","unstructured":"Cz\u0142onkowska A, Rodo M, Wierzchowska-Ciok A, Smoli\u0144ski \u0141, Litwin T (2018) Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. Liver Int 38:1860\u20131866","journal-title":"Liver Int"},{"key":"8910_CR24","first-page":"1","volume":"20","author":"G Gromadzka","year":"2005","unstructured":"Gromadzka G, Schmidt H, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Cz\u0142onkowska A (2005) The p.H1069Q mutation in ATP7B and clinical manifestation of Wilson\u2019s disease. Mov Disord 20:1\u20134","journal-title":"Mov Disord"},{"key":"8910_CR25","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1111\/j.1399-0004.2005.00528.x","volume":"68","author":"G Gromadzka","year":"2005","unstructured":"Gromadzka G, Schmidt H, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Cz\u0142onkowska A (2005) Frameshift and nonsense mutations in ATP7B gene in Wilson\u2019s disease. Clin Genet 68:524\u2013532","journal-title":"Clin Genet"},{"key":"8910_CR26","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1002\/mds.20694","volume":"21","author":"JM Walshe","year":"2006","unstructured":"Walshe JM (2006) History of Wilson\u2019s disease: 1912 to 2000. Mov Disord 21:142\u2013147","journal-title":"Mov Disord"},{"key":"8910_CR27","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1111\/j.1468-1331.2009.02607.x","volume":"16","author":"M Svetel","year":"2009","unstructured":"Svetel M, Pekmezovi\u0107 T, Petrovi\u0107 I, Tomi\u0107 A, Kresojevi\u0107 N, Jesi\u0107 R, Kazi\u0107 S, Raicevi\u0107 R, Stefanovi\u0107 D, Delibasi\u0107 N, Zivanovi\u0107 D, Dordevi\u0107 M, Kosti\u0107 VS (2009) Long-term outcome in Serbian patients with Wilson\u2019s disease. Eur J Neurol 16:852\u2013857","journal-title":"Eur J Neurol"},{"key":"8910_CR28","doi-asserted-by":"publisher","first-page":"2216","DOI":"10.1002\/mds.21693","volume":"22","author":"JM Walshe","year":"2007","unstructured":"Walshe JM (2007) Cause of death in Wilson disease. Mov Disord 22:2216\u20132220","journal-title":"Mov Disord"},{"key":"8910_CR29","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.3748\/wjg.v13.i11.1711","volume":"13","author":"C Eisenbach","year":"2007","unstructured":"Eisenbach C, Sieg O, Stremmel W, Encke J, Merle U (2007) Diagnostic criteria for acute liver failure due to Wilson disease. World J Gastroenterol 13:1711\u20131714","journal-title":"World J Gastroenterol"},{"key":"8910_CR30","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1136\/gut.2005.087262","volume":"56","author":"U Merle","year":"2007","unstructured":"Merle U, Schaefer M, Ferenci P, Stremmel W (2007) Clinical presentation and long-term outcome of Wilson\u2019s disease. Gut 56:115\u2013120","journal-title":"Gut"},{"key":"8910_CR31","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1053\/j.gastro.2010.12.034","volume":"140","author":"KH Weiss","year":"2011","unstructured":"Weiss KH, Gotthardt DN, Klemm D, Merle U, Ferenci-Foerster D, Schaefer M, Ferenci P, Stremmel W (2011) Zinc monotherapy is not as effective as chelating agents in Wilson\u2019s disease. Gastroenterology 140:1189\u20131198","journal-title":"Gastroenterology"},{"key":"8910_CR32","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1007\/s00415-005-0720-4","volume":"252","author":"A Cz\u0142onkowska","year":"2005","unstructured":"Cz\u0142onkowska A, Tarnacka B, Litwin T, Gajda J, Rodo M (2005) Wilson\u2019s disease: cause of mortality in 164 patients. J Neurol 252:698\u2013703","journal-title":"J Neurol"},{"key":"8910_CR33","first-page":"23","volume":"29","author":"A Przyby\u0142kowski","year":"2014","unstructured":"Przyby\u0142kowski A, Gromadzka G, Chabik G, Wierzchowska A, Litwin T, Cz\u0142onkowska A (2014) Liver cirrhosis in neurological phenotype of Wilson\u2019s disease. Funct Neurol 29:23\u201329","journal-title":"Funct Neurol"},{"key":"8910_CR34","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.3390\/diagnostics13111898","volume":"13","author":"P Nehring","year":"2023","unstructured":"Nehring P, Szeligowska J, Przyby\u0142kowski A (2023) Elastography of the liver in Wilson\u2019s disease. Diagnostics (Basel) 13:1898","journal-title":"Diagnostics (Basel)"},{"key":"8910_CR35","doi-asserted-by":"publisher","first-page":"2136","DOI":"10.1111\/liv.14179","volume":"39","author":"C Appenzeller-Herzog","year":"2019","unstructured":"Appenzeller-Herzog C, Mathes T, Heeres MLS, Weiss KH, Houwen RHJ, Ewald H (2019) Comparative effectiveness of therapies for Wilson\u2019s disease. Liver Int 39:2136\u20132152","journal-title":"Liver Int"},{"issue":"3","key":"8910_CR36","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1007\/s10072-023-07126-8","volume":"45","author":"D Tornabene","year":"2024","unstructured":"Tornabene D, Bini P, Gastaldi M, Vegezzi E, Asteggiano C, Marchioni E, Diamanti L (2024) Neurological complications due to copper deficiency in the context of Wilson disease treatment: a case report with long-term follow-up and review of the literature. Neurol Sci 45(3):987\u2013996","journal-title":"Neurol Sci"},{"key":"8910_CR37","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/j.jns.2015.06.010","volume":"355","author":"T Litwin","year":"2015","unstructured":"Litwin T, Dzie\u017cyc K, Karlinski M, Chabik G, Czepiel W, Cz\u0142onkowska A (2015) Early neurological worsening in patients with Wilson\u2019s disease. J Neurol Sci 355:162\u2013167","journal-title":"J Neurol Sci"}],"container-title":["Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-08910-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10072-026-08910-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10072-026-08910-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T06:35:57Z","timestamp":1774074957000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10072-026-08910-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,21]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["8910"],"URL":"https:\/\/doi.org\/10.1007\/s10072-026-08910-y","relation":{},"ISSN":["1590-1874","1590-3478"],"issn-type":[{"value":"1590-1874","type":"print"},{"value":"1590-3478","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,21]]},"assertion":[{"value":"29 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the local ethics committee of the Institute Psychiatry and Neurology, Warsaw, Poland and conducted in accordance with the 1964 Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All financial involvement (e.g., employment, consultancies, honoraria, stock ownership or options, grants or patents receiving or pending, royalties) with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the Submitted Publication material are completely disclosed. We have no relevant financial interest in the submitted publication material.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Financial Disclosure"}}],"article-number":"279"}}