Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3
Disclosure statement No potential conflict of interest was reported by the authors. R eferences R éférences R eferencias 1. Bull PC, Tomás GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet. 1993; 5: 327-337. 2. Tanzi RE, Petrukhin K, Chernov E, Pellequer JL, Wasco W, Ross B, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet. 1993; 5: 344–350. 3. Faoucher M, Caroline D. The psychopharmacology of Wilson disease and other metabolic disorders. Handbook of clinical neurology. 2019; 165: 191-205. 4. Hedera P. Wilson’s disease: A master of disguise. Parkinsonism & Related Disorders. 2019; 59: 140-145. 5. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, et al., Molecular characterization of Wilson disease in the Sardinian population–evidence of a founder effect. Hum. Mutat. 1999; 14: 294–303. 6. Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson’s disease in the Republic of Ireland. Journal of Neurology, Neurosurgery & Psychiatry. 1993; 56(3): 298–300. 7. Olsson C, Waldenström E, Westermark K, Landegre U, Syvanen AC. Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur. J. Hum. Genet. 2000; 8: 933–938. 8. Lopes LAL, Souza SEM, Filho VMA, Borges MAF. Mielopathy related to copper deficiency after bariatric surgery: case report Mielopatia relacionada à deficiência de cobre após cirurgia bariátrica: relato de caso. Brazilian Journal of Health Review. 2021; 4(6): 27188-94. 9. Roberts EA, Schilsky ML. American association for study of liver diseases (AASLD). Diagnosis and treatment of Wilson's disease: an update. Hepatology. 2008; 47: 2089–2111. 10. Lorincz MT. Wilson disease and related copper disorders. Handbook of Clinical Neurology. 2018; 147: 279–292. 11. Tussolini IGA, Tussolini GR, Tussolini JF, Pontes LS, Junior MTR, Silva, PD. Doença de Menkes: relato de um caso raro na Amazônia. Brazilian Journal of Health Review . 2023; 6 (1): 4016-26. 12. Ortiz JF, Cox AM, Tambo W, Eskander N, Wirth M, Valdez M, et al. Neurological Manifestations of Wilson's Disease: Pathophysiology and Localization of Each Component. Cureus. 2020; 12(11):e11509. 13. Walshe JM. Wilson’s disease. The presenting symptoms. Arch. Dis. Child. 1962; 37: 253–256. 14. Saito T. Presenting symptoms and natural history of Wilson disease. Eur. J. Pediatr. 1987; 146: 261–265. 15. Oder W, Grimm G, Kollegger H, Ferenci P, Schneider B, Deecke L. Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. J. Neurol. 1991; 238: 281–287. 16. Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov. Disord. 2006; 21: 2192–2196. 17. Burke JF, Dayalu P, Nan B, Askari F, Brewer GJ, Lorincz MT. Prognostic significance of neurologic examination findings in Wilson disease. Park. Relat. Disord. 2011; 17: 551–556. 18. Członkowska A, Litwin T, Dzie ż yc K, Karli ń ski M, Bring J, Bjartmar C. 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: 34. 19. Rubinstein SS, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. Arch. Neurol. 1987; 44: 365–370. 20. Cauza E, Dobersberger TM, Polli C, Kaserer K, Kramer L, Ferenci P. Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin. J. Hepatol. 1997; 27: 358–362. 21. Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL. Aceruloplasminemia: an inherited neuro- degenerative disease with impairment of iron homeostasis. Ann. N. Y. Acad. Sci. 2004; 1012: 299–305. 22. Tümer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum. Mutat. 2013; 34: 417–429. 23. Ferenci P. Pathophysiology and clinical features of Wilson disease. Metabolic brain disease. 2004; 19: 229-39. 24. Lorincz MT. Neurologic Wilson’s disease. Ann N Y Acad Sci; 2010: 1184: 173–187. 25. Prashanth LK, Sinha S, Taly AB, Mahadevan A, Vasudev MK, Shankar SK. Spectrum of epilepsy in Wilson's disease with electroencephalographic, MR imaging and pathological correlates. J Neurol Sci. 2010; 291: 44–51. 26. Stremmel W, Merle U, Weiskirchen R. Clinical features of Wilson disease. Annals of Translational Medicine. 2019; 7(2): 61. 20 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals Neurological Wilson Disease in a Young Brazilian Adult: A Case Report
RkJQdWJsaXNoZXIy NTg4NDg=