ppanPersonalized Psychiatry and NeurologyPersonalized Psychiatry and Neurology2712-9179V. M. Bekhterev National Medical Research Centre for Psychiatry and Neurology of the Ministry of Health of the Russian Federation (Bekhterev NMRC PN)10.52667/2712-9179-2023-3-2-15-24ppan-80Research ArticleLECTIONClassification and Clinical Heterogeneity of Hepatolenticular DegenerationOvchinnikovaE. V.

Elena V. Ovchinnikova

690922, Vladivostok

192019 St. Petersburg

690091, Vladivostok

VaimanE. E.

Elena E. Vaiman

192019 St. Petersburg

Tel.: +7-(812)-670-02-20

vaimanelenadoc@gmail.comShnayderN. A.

Natalia A. Shnayder

192019 St. Petersburg

660022 Krasnoyarsk

OvchinnikovaA. A.

Anna A. Ovchinnikova

690922, Vladivostok

NasyrovaR. F.

Regina F. Nasyrova

192019 St. Petersburg

Far Eastern Federal University; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology; Primorsky Regional Clinical Hospital No. 1Russian FederationV.M. Bekhterev National Medical Research Center for Psychiatry and NeurologyRussian FederationV.M. Bekhterev National Medical Research Center for Psychiatry and Neurology; V. F. Voyno-Yasenetsky Krasnoyarsk State Medical UniversityRussian FederationFar Eastern Federal UniversityRussian Federation202315112023321524Copyright © Ovchinnikova E.V., Vaiman E.E., Shnayder N.A., Ovchinnikova A.A., Nasyrova R.F., 20232023Ovchinnikova E.V., Vaiman E.E., Shnayder N.A., Ovchinnikova A.A., Nasyrova R.F.Ovchinnikova E.V., Vaiman E.E., Shnayder N.A., Ovchinnikova A.A., Nasyrova R.F.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.jppn.ru/jour/article/view/80

Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.

hepatolenticular degeneration Wilson-Konovalov diseaseATP7B geneclassificationsclinical symptomsReferencesScheiber, I.F.; Brůha, R.; Dušek, P. Pathogenesis of Wilson disease. Handb Clin Neurol 2017, 142, 43-55. doi: 10.1016/B978-0-444-63625-6.00005-7. PMID: 28433109.Scheiber, I.F.; Brůha, R.; Dušek, P. Pathogenesis of Wilson disease. Handb Clin Neurol 2017, 142, 43-55. doi: 10.1016/B978-0-444-63625-6.00005-7. PMID: 28433109.Chang, I.J.; Hahn S.H. The genetics of Wilson disease. Handb Clin Neurol 2017, 142, 19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. PMID: 28433102; PMCID: PMC5648646Chang, I.J.; Hahn S.H. The genetics of Wilson disease. Handb Clin Neurol 2017, 142, 19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. PMID: 28433102; PMCID: PMC5648646Hall H.C. La dégénérescence hépato-lenticulaire: maladie de Wilson, pseudo-sclérose. Paris: Masson, 1921Hall H.C. La dégénérescence hépato-lenticulaire: maladie de Wilson, pseudo-sclérose. Paris: Masson, 1921Bearn A.G. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960, 24, 33-43. doi: 10.1111/j.1469-1809.1959.tb01713.x. PMID: 13797909Bearn A.G. A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration). Ann Hum Genet 1960, 24, 33-43. doi: 10.1111/j.1469-1809.1959.tb01713.x. PMID: 13797909Konovalov N.V. Hepatocerebral dystrophy. –M.: Medgiz, 1960. -555 p.Konovalov N.V. Hepatocerebral dystrophy. –M.: Medgiz, 1960. -555 p.Denny-brown, D. Hepatolenticular degeneration (wilson's disease). Two different components. N Engl J Med, 1964, 270, 1149-56. doi: 10.1056/NEJM196405282702203. PMID: 14129061Denny-brown, D. Hepatolenticular degeneration (wilson's disease). Two different components. N Engl J Med, 1964, 270, 1149-56. doi: 10.1056/NEJM196405282702203. PMID: 14129061Cox, D.W.; Fraser, F.C.; Sass-Kortsak, A. A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet 1972, 24(6 Pt 1), 646-66. PMID: 5082916; PMCID: PMC1762287Cox, D.W.; Fraser, F.C.; Sass-Kortsak, A. A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet 1972, 24(6 Pt 1), 646-66. PMID: 5082916; PMCID: PMC1762287Lößner, J.; Bachmann, H.; Biesold, D. (1979). Zu einigen Problemen der Wilsonschen Erkrankung. Psychiatrie, Neurologie Und Medizinische Psychologie 1979, 31(9), 513–524. http://www.jstor.org/stable/45255043Lößner, J.; Bachmann, H.; Biesold, D. (1979). Zu einigen Problemen der Wilsonschen Erkrankung. Psychiatrie, Neurologie Und Medizinische Psychologie 1979, 31(9), 513–524. http://www.jstor.org/stable/45255043Walshe, J.M.; Yealland, M. Wilson's disease: the problem of delayed diagnosis. J Neurol Neurosurg Psychiatry 1992, 55(8), 692-6. doi: 10.1136/jnnp.55.8.692. PMID: 1527540; PMCID: PMC489207Walshe, J.M.; Yealland, M. Wilson's disease: the problem of delayed diagnosis. J Neurol Neurosurg Psychiatry 1992, 55(8), 692-6. doi: 10.1136/jnnp.55.8.692. PMID: 1527540; PMCID: PMC489207Cuthbert, J.A. Wilson's disease. Update of a systemic disorder with protean manifestations. Gastroenterol Clin North Am 1998, 27(3), 655-81, vi-vii. doi: 10.1016/s0889-8553(05)70025-x. PMID: 9891702Cuthbert, J.A. Wilson's disease. Update of a systemic disorder with protean manifestations. Gastroenterol Clin North Am 1998, 27(3), 655-81, vi-vii. doi: 10.1016/s0889-8553(05)70025-x. PMID: 9891702Sukhareva, G.V. Hepatolenticular degeneration. Selected chapters of clinical gastroenterology. M., 2005. – P. 199 – 209Sukhareva, G.V. Hepatolenticular degeneration. Selected chapters of clinical gastroenterology. M., 2005. – P. 199 – 209Taly, A.B.; Meenakshi-Sundaram, S.; Sinha, S. еt al. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine 2007, 86(2), 112-121. doi: 10.1097/MD.0b013e318045a00e. PMID: 17435591Taly, A.B.; Meenakshi-Sundaram, S.; Sinha, S. еt al. Wilson disease: description of 282 patients evaluated over 3 decades. Medicine 2007, 86(2), 112-121. doi: 10.1097/MD.0b013e318045a00e. PMID: 17435591Voloshina, N.P.; Voloshin-Gaponov, I.K.; Vazhnova, E.A. Algorithm for diagnosis and management of patients with Wilson–Konovalov disease. Ukrainian Bulletin of Psychoneurology 2015, 23(1), 23 – 27Voloshina, N.P.; Voloshin-Gaponov, I.K.; Vazhnova, E.A. Algorithm for diagnosis and management of patients with Wilson–Konovalov disease. Ukrainian Bulletin of Psychoneurology 2015, 23(1), 23 – 27Compston, A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912, 34, 295-509. Brain 2009, 132(Pt 8), 1997-2001. doi: 10.1093/brain/awp193. PMID: 19634211Compston, A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912, 34, 295-509. Brain 2009, 132(Pt 8), 1997-2001. doi: 10.1093/brain/awp193. PMID: 19634211Oder, W.; Prayer, L.; Grimm, G. et al. Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology 1993, 43(1), 120-4. doi: 10.1212/wnl.43.1_part_1.120. PMID: 8423874Oder, W.; Prayer, L.; Grimm, G. et al. Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology 1993, 43(1), 120-4. doi: 10.1212/wnl.43.1_part_1.120. PMID: 8423874Kim, T.J.; Kim, I.O.; Kim, W.S. et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol 2006, 27(6), 1373-8. PMID: 16775300; PMCID: PMC8133926Kim, T.J.; Kim, I.O.; Kim, W.S. et al. MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. AJNR Am J Neuroradiol 2006, 27(6), 1373-8. PMID: 16775300; PMCID: PMC8133926Chakor, R.T.; Bharote, H.; Eklare, N.; Tamboli, K. Unilateral rubral tremors in Wilson's disease treated with dimercaprol. Ann Indian Acad Neurol 2015, 18(1), 115-6. doi: 10.4103/0972-2327.144286. PMID: 25745328; PMCID: PMC4350197Chakor, R.T.; Bharote, H.; Eklare, N.; Tamboli, K. Unilateral rubral tremors in Wilson's disease treated with dimercaprol. Ann Indian Acad Neurol 2015, 18(1), 115-6. doi: 10.4103/0972-2327.144286. PMID: 25745328; PMCID: PMC4350197Hermann, W. Classification and differential diagnosis of Wilson's disease. Ann Transl Med 2019, 7(Suppl 2), S63. doi: 10.21037/atm.2019.02.07. PMID: 31179300; PMCID: PMC6531651Hermann, W. Classification and differential diagnosis of Wilson's disease. Ann Transl Med 2019, 7(Suppl 2), S63. doi: 10.21037/atm.2019.02.07. PMID: 31179300; PMCID: PMC6531651World Health Organization. (1995). International Statistical Classification of Diseases and Related Health Problems: Tenth Revision: Volume 1. Part 1. World Health Organization. https://iris.who.int/handle/10665/85974World Health Organization. (1995). International Statistical Classification of Diseases and Related Health Problems: Tenth Revision: Volume 1. Part 1. World Health Organization. https://iris.who.int/handle/10665/85974ICD-11 (International Classification of Diseases, 11th revision) (date of visit 09/20/23) URL: https://icd11.ru/narush-metabolizma-medy/ICD-11 (International Classification of Diseases, 11th revision) (date of visit 09/20/23) URL: https://icd11.ru/narush-metabolizma-medy/Tanzi, R.E.; Petrukhin, K.; Chernov. I. et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5(4), 344-50. doi: 10.1038/ng1293-344. PMID: 8298641Tanzi, R.E.; Petrukhin, K.; Chernov. I. et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993, 5(4), 344-50. doi: 10.1038/ng1293-344. PMID: 8298641Bull, P.C.; Thomas, G.R.; Rommens, J.M. et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4), 327–37. doi: 10.1038/ng1293-327. PMID: 8298639Bull, P.C.; Thomas, G.R.; Rommens, J.M. et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993, 5(4), 327–37. doi: 10.1038/ng1293-327. PMID: 8298639Otto, P.A.; Deguti, M.M.; Araújo, T.F. et al. Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil. Prensa Med Argent 2016, 102, 5. PMID: 27725671 DOI: 10.1038/ncomms12522Otto, P.A.; Deguti, M.M.; Araújo, T.F. et al. Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil. Prensa Med Argent 2016, 102, 5. PMID: 27725671 DOI: 10.1038/ncomms12522Li, N.; Krishna, S.G.; Hinton, A. et al. Characteristics and outcomes of hospitalized patients with Wilson's disease in the United States: A national survey. Ann Hepatol 2021, 25, 100362. doi: 10.1016/j.aohep.2021.100362. PMID: 34144249Li, N.; Krishna, S.G.; Hinton, A. et al. Characteristics and outcomes of hospitalized patients with Wilson's disease in the United States: A national survey. Ann Hepatol 2021, 25, 100362. doi: 10.1016/j.aohep.2021.100362. PMID: 34144249Gialluisi, A.; Incollu, S.; Pippucci, T. et al. The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet 2013, 21(11), 1308-11. doi: 10.1038/ejhg.2013.43. PMID: 23486543; PMCID: PMC3798848Gialluisi, A.; Incollu, S.; Pippucci, T. et al. The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. Eur J Hum Genet 2013, 21(11), 1308-11. doi: 10.1038/ejhg.2013.43. PMID: 23486543; PMCID: PMC3798848Poujois, A.; Woimant, F.; Samson, S. еt al. Characteristics and prevalence of Wilson's disease: A 2013 observational population-based study in France. Clin Res Hepatol Gastroenterol 2018, 42(1), 57-63. doi: 10.1016/j.clinre.2017.05.011. PMID: 28648494Poujois, A.; Woimant, F.; Samson, S. еt al. Characteristics and prevalence of Wilson's disease: A 2013 observational population-based study in France. Clin Res Hepatol Gastroenterol 2018, 42(1), 57-63. doi: 10.1016/j.clinre.2017.05.011. PMID: 28648494Sipilä, J.O.T.; Hietala, M.; Kytö, V.; Kaasinen, V. Wilson's Disease in Finland: A Nationwide Population-Based Study. Mov Disord 2020, 35(12), 2323-2327. doi: 10.1002/mds.28207. PMID: 32618023Sipilä, J.O.T.; Hietala, M.; Kytö, V.; Kaasinen, V. Wilson's Disease in Finland: A Nationwide Population-Based Study. Mov Disord 2020, 35(12), 2323-2327. doi: 10.1002/mds.28207. PMID: 32618023Moreno-Marro, S.; Barrachina-Bonet, L.; Páramo-Rodríguez, L. et al. Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras [Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries]. Gac Sanit 2021, 35(6), 551-558. doi: 10.1016/j.gaceta.2020.07.011. PMID: 33010964Moreno-Marro, S.; Barrachina-Bonet, L.; Páramo-Rodríguez, L. et al. Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras [Wilson's disease in Spain: validation of sources of information used by the Rare Diseases Registries]. Gac Sanit 2021, 35(6), 551-558. doi: 10.1016/j.gaceta.2020.07.011. PMID: 33010964O'Brien, M.; Reilly, M.; Sweeney, B. et al. Epidemiology of Wilson's disease in Ireland. Mov Disord 2014, 29(12), 1567-8. PMID: 25112974. doi: 10.1002/mds.25983O'Brien, M.; Reilly, M.; Sweeney, B. et al. Epidemiology of Wilson's disease in Ireland. Mov Disord 2014, 29(12), 1567-8. PMID: 25112974. doi: 10.1002/mds.25983Villarreal, L.; Hernández-Ortega, A.; Sánchez-Monteagudo, A. et al. Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity. J Gastroenterol 2021, 56, 78–89. PMID: 33159804 DOI: 10.1007/s00535-020-01745-0Villarreal, L.; Hernández-Ortega, A.; Sánchez-Monteagudo, A. et al. Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity. J Gastroenterol 2021, 56, 78–89. PMID: 33159804 DOI: 10.1007/s00535-020-01745-0Cheung, K.S.; Seto, W.K.; Fung, J. et al. Epidemiology and natural history of Wilson’s disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016. World J Gastroenterol 2017, 23(43), 7716-7726 PMID: 29209112 DOI: 10.3748/wjg.v23.i43.7716Cheung, K.S.; Seto, W.K.; Fung, J. et al. Epidemiology and natural history of Wilson’s disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016. World J Gastroenterol 2017, 23(43), 7716-7726 PMID: 29209112 DOI: 10.3748/wjg.v23.i43.7716Choe, E.J.; Choi, J.W.; Kang, M. et al. A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016. Sci Rep 2020, 10, 14041. PMID: 32820224 PMCID: PMC7441316 DOI: 10.1038/s41598-020-70976-1Choe, E.J.; Choi, J.W.; Kang, M. et al. A population-based epidemiology of Wilson’s disease in South Korea between 2010 and 2016. Sci Rep 2020, 10, 14041. PMID: 32820224 PMCID: PMC7441316 DOI: 10.1038/s41598-020-70976-1Naorniakowska, M.; Dądalski, M.; Kamińska, D.; et al. Clinical presentations of Wilson disease among Polish children. Dev Period Med 2016, 20(3), 216-221. PMID: 27941192Naorniakowska, M.; Dądalski, M.; Kamińska, D.; et al. Clinical presentations of Wilson disease among Polish children. Dev Period Med 2016, 20(3), 216-221. PMID: 27941192Coffey, A.J.; Durkie, M.; Hague, S. et al. A genetic study of Wilson's disease in the United Kingdom. Brain 2013, 136(Pt 5), 1476-87. PMID: 23518715; PMCID: PMC3634195. doi: 10.1093/brain/awt035Coffey, A.J.; Durkie, M.; Hague, S. et al. A genetic study of Wilson's disease in the United Kingdom. Brain 2013, 136(Pt 5), 1476-87. PMID: 23518715; PMCID: PMC3634195. doi: 10.1093/brain/awt035Jang, J.H.; Lee, T.; Bang, S. et al. Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach. J Hum Genet 2017, 62, 815–818. PMID: 28515472 DOI: 10.1038/jhg.2017.49Jang, J.H.; Lee, T.; Bang, S. et al. Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach. J Hum Genet 2017, 62, 815–818. PMID: 28515472 DOI: 10.1038/jhg.2017.49Yamaguchi, H.; Nagase, H.; Tokumoto, S. et al. Prevalence of Wilson disease based on genome databases in Japan. Pediatr Int 2021, 63(8), 918-922. PMID: 33260258. doi: 10.1111/ped.14565,Yamaguchi, H.; Nagase, H.; Tokumoto, S. et al. Prevalence of Wilson disease based on genome databases in Japan. Pediatr Int 2021, 63(8), 918-922. PMID: 33260258. doi: 10.1111/ped.14565,Ponomarev, V.V. Rare neurological syndromes and diseases: a guide for doctors / V.V. Ponomarev. - St. Petersburg: Foliant, 2005. - 214 p. - P. 115 – 121Ponomarev, V.V. Rare neurological syndromes and diseases: a guide for doctors / V.V. Ponomarev. - St. Petersburg: Foliant, 2005. - 214 p. - P. 115 – 121Das, S.K.; Ray, K. Wilson’s disease: an update. Nat Clin Pract Neurol 2006, 2, 482-93. doi: 10.1038/ncpneuro0291Das, S.K.; Ray, K. Wilson’s disease: an update. Nat Clin Pract Neurol 2006, 2, 482-93. doi: 10.1038/ncpneuro0291Westphal, C. Uber eine dem Gilde der cerebrospinalen grauen Degenerationen ahnliche Erkrankung des centralen Nervensystems ohne anatomischen Befung nebst einigen Bemerkungen uber Paradose Contraction / C. Westphal. Arch. Psychiat. Nervenkr 1983, 4, 87-134Westphal, C. Uber eine dem Gilde der cerebrospinalen grauen Degenerationen ahnliche Erkrankung des centralen Nervensystems ohne anatomischen Befung nebst einigen Bemerkungen uber Paradose Contraction / C. Westphal. Arch. Psychiat. Nervenkr 1983, 4, 87-134Strumpell, A. Cited. “Hereditary diseases of the nervous system” / ed. Yu.Ya. Veltishcheva, P.A. Temina. M.: Medicine, - 1998. – 104р.Strumpell, A. Cited. “Hereditary diseases of the nervous system” / ed. Yu.Ya. Veltishcheva, P.A. Temina. M.: Medicine, - 1998. – 104р.Cumings, J.N. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948, 71(Pt. 4), 410-5. doi: 10.1093/brain/71.4.410. PMID: 18124738Cumings, J.N. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain 1948, 71(Pt. 4), 410-5. doi: 10.1093/brain/71.4.410. PMID: 18124738Bandmann, O.; Weiss, K.H.; Kaler, S.G. Wilson's disease and other neurological copper disorders. Lancet Neurol 2015, 14(1), 103-13. doi: 10.1016/S1474-4422(14)70190-5. PMID: 25496901; PMCID: PMC4336199Bandmann, O.; Weiss, K.H.; Kaler, S.G. Wilson's disease and other neurological copper disorders. Lancet Neurol 2015, 14(1), 103-13. doi: 10.1016/S1474-4422(14)70190-5. PMID: 25496901; PMCID: PMC4336199Schroeder, S.M.; Matsukuma, K.E.; Medici, V. Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features. Ann Transl Med 2021, 9(17), 1394. doi: 10.21037/atm-21-2264. PMID: 34733946; PMCID: PMC8506558;Schroeder, S.M.; Matsukuma, K.E.; Medici, V. Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features. Ann Transl Med 2021, 9(17), 1394. doi: 10.21037/atm-21-2264. PMID: 34733946; PMCID: PMC8506558;Kasztelan-Szczerbinska, B.; Cichoz-Lach, H. Wilson's Disease: An Update on the Diagnostic Workup and Management. J Clin Med 2021, 10(21), 5097. doi: 10.3390/jcm10215097. PMID: 34768617; PMCID: PMC8584493].Kasztelan-Szczerbinska, B.; Cichoz-Lach, H. Wilson's Disease: An Update on the Diagnostic Workup and Management. J Clin Med 2021, 10(21), 5097. doi: 10.3390/jcm10215097. PMID: 34768617; PMCID: PMC8584493].Członkowska, A.; Litwin, T.; Chabik, G. Wilson disease: neurologic features. Handb Clin Neurol 2017, 142, 101-119. doi: 10.1016/B978-0-444-63625-6.00010-0. PMID: 28433096Członkowska, A.; Litwin, T.; Chabik, G. Wilson disease: neurologic features. Handb Clin Neurol 2017, 142, 101-119. doi: 10.1016/B978-0-444-63625-6.00010-0. PMID: 28433096Dusek, P.; Litwin, T.; Członkowska, A. Neurologic impairment in Wilson disease. Ann Transl Med 2019, 7(Suppl 2), S64. doi: 10.21037/atm.2019.02.43. PMID: 31179301; PMCID: PMC6531649Dusek, P.; Litwin, T.; Członkowska, A. Neurologic impairment in Wilson disease. Ann Transl Med 2019, 7(Suppl 2), S64. doi: 10.21037/atm.2019.02.43. PMID: 31179301; PMCID: PMC6531649Dusek, P.; Litwin, T.; Czlonkowska, A. Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin 2015, 33(1), 175-204. doi: 10.1016/j.ncl.2014.09.006. PMID: 25432729Dusek, P.; Litwin, T.; Czlonkowska, A. Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin 2015, 33(1), 175-204. doi: 10.1016/j.ncl.2014.09.006. PMID: 25432729Mulligan, C.; Bronstein, J.M. Wilson Disease: An Overview and Approach to Management. Neurol Clin 2020, 38(2), 417-432. doi: 10.1016/j.ncl.2020.01.005. PMID: 32279718Mulligan, C.; Bronstein, J.M. Wilson Disease: An Overview and Approach to Management. Neurol Clin 2020, 38(2), 417-432. doi: 10.1016/j.ncl.2020.01.005. PMID: 32279718Chan, K.H.; Cheung, R.T.; Au-Yeung, K.M. et al. Wilson's disease with depression and parkinsonism. J Clin Neurosci 2005, 12(3), 303-5. doi: 10.1016/j.jocn.2004.09.005. PMID: 15851088,Chan, K.H.; Cheung, R.T.; Au-Yeung, K.M. et al. Wilson's disease with depression and parkinsonism. J Clin Neurosci 2005, 12(3), 303-5. doi: 10.1016/j.jocn.2004.09.005. PMID: 15851088,Lorincz, M.T. Neurologic Wilson's disease. Ann N Y Acad Sci 2010, 1184, 173-87. doi: 10.1111/j.1749-6632.2009.05109.x. PMID: 20146697Lorincz, M.T. Neurologic Wilson's disease. Ann N Y Acad Sci 2010, 1184, 173-87. doi: 10.1111/j.1749-6632.2009.05109.x. PMID: 20146697Członkowska, A.; Litwin, T.; Dzieżyc, K. Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. BMC Neurol 2018, 18(1), 34. doi: 10.1186/s12883-018-1039-y. PMID: 29621974; PMCID: PMC5887239Członkowska, A.; Litwin, T.; Dzieżyc, K. Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. BMC Neurol 2018, 18(1), 34. doi: 10.1186/s12883-018-1039-y. PMID: 29621974; PMCID: PMC5887239Schaefer, M.; Gotthardt, D.N.; Ganion, N. Wilson disease: Health-related quality of life and risk for depression. Clin Res Hepatol Gastroenterol 2016, 40(3), 349-356. doi: 10.1016/j.clinre.2015.09.007. PMID: 26549350;Schaefer, M.; Gotthardt, D.N.; Ganion, N. Wilson disease: Health-related quality of life and risk for depression. Clin Res Hepatol Gastroenterol 2016, 40(3), 349-356. doi: 10.1016/j.clinre.2015.09.007. PMID: 26549350;Balijepalli, C.; Yan, K.; Gullapalli, L. Quality of Life in Wilson's Disease: A Systematic Literature Review. J Health Econ Outcomes Res 2021, 8(2), 105-113. doi: 10.36469/jheor.2021.29987. PMID: 34963883; PMCID: PMC8655222Balijepalli, C.; Yan, K.; Gullapalli, L. Quality of Life in Wilson's Disease: A Systematic Literature Review. J Health Econ Outcomes Res 2021, 8(2), 105-113. doi: 10.36469/jheor.2021.29987. PMID: 34963883; PMCID: PMC8655222Demily, C.; Parant, F.; Cheillan, D. Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study. Ann Gen Psychiatry 2017, 16, 19. doi: 10.1186/s12991-017-0142-6. PMID: 28392828; PMCID: PMC5379609Demily, C.; Parant, F.; Cheillan, D. Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study. Ann Gen Psychiatry 2017, 16, 19. doi: 10.1186/s12991-017-0142-6. PMID: 28392828; PMCID: PMC5379609Litwin, T.; Dzieżyc, K.; Karliński, M. et al. Psychiatric disturbances as a first clinical symptom of Wilson's disease - case report. Psychiatr Pol 2016, 50(2), 337-344. doi: 10.12740/PP/45218. PMID: 27288679Litwin, T.; Dzieżyc, K.; Karliński, M. et al. Psychiatric disturbances as a first clinical symptom of Wilson's disease - case report. Psychiatr Pol 2016, 50(2), 337-344. doi: 10.12740/PP/45218. PMID: 27288679Bajaj, B.K.; Wadhwa, A.; Singh, R.; Gupta, S. Cardiac arrhythmia in Wilson's disease: An oversighted and overlooked entity! J Neurosci Rural Pract 2016, 7(4), 587-589. doi: 10.4103/0976-3147.186982. PMID: 27695244; PMCID: PMC5006476Bajaj, B.K.; Wadhwa, A.; Singh, R.; Gupta, S. Cardiac arrhythmia in Wilson's disease: An oversighted and overlooked entity! J Neurosci Rural Pract 2016, 7(4), 587-589. doi: 10.4103/0976-3147.186982. PMID: 27695244; PMCID: PMC5006476Subrahmanyam, D.K.; Vadivelan, M.; Giridharan, S.; Balamurugan, N. Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease. Indian J Nephrol 2014, 24(3), 171-4. doi: 10.4103/0971-4065.132017. PMID: 25120295; PMCID: PMC4127837Subrahmanyam, D.K.; Vadivelan, M.; Giridharan, S.; Balamurugan, N. Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease. Indian J Nephrol 2014, 24(3), 171-4. doi: 10.4103/0971-4065.132017. PMID: 25120295; PMCID: PMC4127837Kapoor, N.; Shetty, S.; Thomas, N.; Paul, T.V. Wilson's disease: An endocrine revelation. Indian J Endocrinol Metab 2014, 18(6), 855-7. doi: 10.4103/2230-8210.141383. PMID: 25364683; PMCID: PMC4192994Kapoor, N.; Shetty, S.; Thomas, N.; Paul, T.V. Wilson's disease: An endocrine revelation. Indian J Endocrinol Metab 2014, 18(6), 855-7. doi: 10.4103/2230-8210.141383. PMID: 25364683; PMCID: PMC4192994Rahul, K.; Anandh, K.; Sonal, G. Wilson's disease masquerading as rheumatoid arthritis. Indian Journal of Medical Specialities 2015, 6 (1), 33–35. https://doi.org/10.1016/j.injms.2015.02.006Rahul, K.; Anandh, K.; Sonal, G. Wilson's disease masquerading as rheumatoid arthritis. Indian Journal of Medical Specialities 2015, 6 (1), 33–35. https://doi.org/10.1016/j.injms.2015.02.006Ovchinnikova, E.V.; Shnayder, N.A.; Ovchinnikova, A.A.; Nasyrova, R.F. Prevalence of hepatolenticular degeneration in different countries. The Clinician 2023, 17(2), 12-18. (In Russ.) https://doi.org/10.17650/1818-8338-2023-17-2-K681Ovchinnikova, E.V.; Shnayder, N.A.; Ovchinnikova, A.A.; Nasyrova, R.F. Prevalence of hepatolenticular degeneration in different countries. The Clinician 2023, 17(2), 12-18. (In Russ.) https://doi.org/10.17650/1818-8338-2023-17-2-K681

The authors declare that there are no conflicts of interest present.