{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T02:36:16Z","timestamp":1649212576921},"reference-count":9,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec id=\"st1\">\n<jats:title>Background: <\/jats:title>\n<jats:p>Wilson disease is an autosomal recessive condition manifested when abnormal copper accumulation in the body particularly involving many organs such as brain, liver, and cornea. Diagnosis is challenging with the completion of tests in blood and urine, a liver biopsy, and clinical evaluation. ATP7B mutations with more than 600 identified variants are the genetic disorders of Wilson disease.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st2\">\n<jats:title>Case Description: <\/jats:title>\n<jats:p>We report an adolescent case with no family history presented with extrapyramidal dyskinesia. Other symptoms include liver cirrhosis and Kayser\u2013Fleischer ring. The typical presentation of blood test results and brain MRI images helps us to suspect Wilson disease in this case. We confirmed to have a p.R778L form and a p.S105X form in ATP7B mutations. After combining therapy with trihexyphenidyl and trientine, the patient\u2019s medical condition was stable and no side effects were observed.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st3\">\n<jats:title>Conclusion: <\/jats:title>\n<jats:p>Screening for the diagnosis of Wilson disease is essential in helping patients benefit from early treatment and genetic counseling.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_489_2021","type":"journal-article","created":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T19:08:27Z","timestamp":1624820907000},"page":"303","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of Wilson disease with the ATP7B mutation presenting movement disorders"],"prefix":"10.25259","volume":"12","author":[{"given":"Huong","family":"Van Nguyen","sequence":"first","affiliation":[{"name":"Department of Neurology, Hanoi Medical University Hospital, Hanoi Medical University, Hanoi, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diep Ngoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Theoretical and Applied Research, Duy Tan University, Da Nang, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huong Thi","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of General Internal Medicine, Vinmec International Hospital, Hanoi, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"10.25259\/SNI_489_2021\/ref-1","doi-asserted-by":"crossref","first-page":"16355","DOI":"10.1074\/jbc.M110.198101","article-title":"Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B","volume":"286","author":"Dmitriev","year":"2011","journal-title":"J Biol 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disease","volume":"94","author":"Poujois","year":"2020","journal-title":"Neurology"},{"key":"10.25259\/SNI_489_2021\/ref-5","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1055\/s-0031-1286056","article-title":"Wilson disease: Pathogenesis and clinical considerations in diagnosis and treatment","volume":"31","author":"Rosencrantz","year":"2011","journal-title":"Semin Liver Dis"},{"key":"10.25259\/SNI_489_2021\/ref-6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","article-title":"The human gene mutation database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine","volume":"133","author":"Stenson","year":"2014","journal-title":"Hum Genet"},{"key":"10.25259\/SNI_489_2021\/ref-7","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/0016-5085(78)90261-5","article-title":"Diagnosis of Wilson\u2019s disease","volume":"74","author":"Sternlieb","year":"1978","journal-title":"Gastroenterology"},{"key":"10.25259\/SNI_489_2021\/ref-8","first-page":"1315","article-title":"Haplotypes and mutations in Wilson disease","volume":"56","author":"Thomas","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.25259\/SNI_489_2021\/ref-9","doi-asserted-by":"crossref","first-page":"6419","DOI":"10.3390\/ijms16036419","article-title":"Wilson\u2019s disease: A comprehensive review of the molecular mechanisms","volume":"16","author":"Wu","year":"2015","journal-title":"Int J Mol Sci"}],"container-title":["Surgical Neurology 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