wilson disease - Medical Dictionary

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wilson disease		A rare autosomal recessive disease characterized by the deposition of copper in the brain; liver; cornea; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as liver cirrhosis; tremor; ataxia and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. [ Books \| Images \| Discussion groups ]

Additional comments : (Hepatolenticular Degeneration, Cerebral Pseudosclerosis, Neurohepatic Degeneration, Pseudosclerosis, Kinnier-Wilson Disease, Progressive Lenticular Degeneration, Westphal-Strumpell Syndrome) Articles Analysis of the human Atox 1 homologue in Wilson patients. Authors: Simon I, Schaefer M, Reichert J, Stremmel W Journal: World J Gastroenterol Inherited metabolic disease of the liver. Authors: Taddei T, Mistry P, Schilsky ML Journal: Curr Opin Gastroenterol Could ATP7B export Cu(I) at the tight junctions and the apical membrane? Authors: Hubbard AL, Braiterman LT Journal: Gastroenterology ATP7B copper-regulated traffic and association with the tight junctions: copper excretion into the bile. Authors: Hernandez S, Tsuchiya Y, García-Ruiz JP, Lalioti V, Nielsen S, Cassio D, Sandoval IV Journal: Gastroenterology Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder. Authors: Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT Journal: J Inherit Metab Dis New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. Authors: Davies LP, Macintyre G, Cox DW Journal: Genet Test Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. Authors: Gojová L, Jansová E, Külm M, Pouchlá S, Kozák L Journal: Clin Genet [Clinical features of hepatolenticular degeneration in children.] Authors: Lu Y, Wang XH, Wang JS Journal: Zhonghua Gan Zang Bing Za Zhi Kinnier Wilson and Sherrington. Authors: Reynolds EH Journal: J Neurol Neurosurg Psychiatry A single-center experience with liver transplantation for Wilson's disease. Authors: Martin AP, Bartels M, Redlich J, Hauss J, Fangmann J Journal: Clin Transplant Frontal-subcortical dementias. Authors: Bonelli RM, Cummings JL Journal: Neurologist Failure of prophylactic zinc in Wilson disease. Authors: Mishra D, Kalra V, Seth R Journal: Indian Pediatr Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease. Authors: Malhi H, Joseph B, Schilsky ML, Gupta S Journal: Regen Med Single pass albumin dialysis (SPAD) in fulminant Wilsonian liver failure: a case report. Authors: Collins KL, Roberts EA, Adeli K, Bohn D, Harvey EA Journal: Pediatr Nephrol [Excessive copper induces hepatocyte apoptosis and affects Bax and Bcl-2 expression in rat live.] Authors: Li YW, Wang XH, Nin Q, Luo XP Journal: Zhongguo Dang Dai Er Ke Za Zhi Once daily trientine for maintenance therapy of Wilson disease. Authors: Fox AN, Schilsky M Journal: Am J Gastroenterol Ethnic specific background of mutations in Bulgarian patients with Wilson disease. Authors: Todorov T, Savov A, Mihaylova V, Buettner J, Koseva O, Krustev Z, Jelev H, Tournev I, Penkov V, Konstantinova D, Tankova L, Tzolova N, Kremensky I, Schmidt H Journal: Genet Couns A rare case of hemochromatosis and Wilson's disease coexisting in the same patient. Authors: Abuzetun JY, Hazin R, Suker M, Porter J Journal: J Natl Med Assoc Relevant histopathologic findings that distinguish acute cellular rejection from cholangitis in hepatic allograft biopsy specimens. Authors: Bilezikçi B, Demirhan B, Kocbiyik A, Arat Z, Haberal M Journal: Transplant Proc Liver transplantation for Wilson's disease. Authors: Sevmis S, Karakayali H, Aliosmanoglu I, Yilmaz U, Ozcay F, Torgay A, Arslan G, Haberal M Journal: Transplant Proc [Epidemiological, etiological and evolutionary aspects of children cirrhosis in a developing country: experience of the pediatric department of SFAX University hospital, Tunisia] Authors: Chaabouni M, Bahloul S, Ben Romdhane W, Ben Saleh M, Ben Halima N, Chouchene C, Ben Hmad A, Zroud N, Kammoun T, Karray A Journal: Tunis Med Probing transient copper chaperone-Wilson disease protein interactions at the single-molecule level with nanovesicle trapping. Authors: Benítez JJ, Keller AM, Ochieng P, Yatsunyk LA, Huffman DL, Rosenzweig AC, Chen P Journal: J Am Chem Soc Cold comfort pharm. Authors: Will RG Journal: Pract Neurol [Piggy-back liver transplantation in treating acute liver failure patients: a report of 15 cases] Authors: Ye QF, Chen WP, Ming YZ, Li K, Ren ZH, She XG Journal: Zhonghua Gan Zang Bing Za Zhi Delivery of the Cu-transporting ATPase ATP7B to the plasma membrane in Xenopus oocytes. Authors: Lörinczi E, Tsivkovskii R, Haase W, Bamberg E, Lutsenko S, Friedrich T Journal: Biochim Biophys Acta Bone mineral density of children with Wilson disease: efficacy of penicillamine and zinc therapy. Authors: Selimoglu MA, Ertekin V, Doneray H, Yildirim M Journal: J Clin Gastroenterol Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Authors: Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW Journal: Hum Mutat ATP7B expression in human breast epithelial cells is mediated by lactational hormones. Authors: Michalczyk A, Bastow E, Greenough M, Camakaris J, Freestone D, Taylor P, Linder M, Mercer J, Ackland ML Journal: J Histochem Cytochem [Clinical diagnosis of two fulminate Wilson disease cases] Authors: Yi LX, Yang X, Chen HC, Zhou JH, Wu XY Journal: Zhonghua Gan Zang Bing Za Zhi Down-regulation of intestinal multidrug resistance-associated protein 2 in long-evans cinnamon rats. Authors: Chiba M, Itagaki S, Kobayashi M, Hirano T, Iseki K Journal: Drug Metab Pharmacokinet [A korean family with Wilson disease occurred in two consecutive generations.] Authors: Choi JS, Lee JH, Ki CS Journal: Korean J Lab Med Neurologic complications of liver transplantation in pediatric patients with the hepatic form of Wilson's disease. Authors: Erol I, Alehan F, Ozcay F, Canan O, Haberal M Journal: J Child Neurol Psychopathology and personality traits in patients with treated Wilson disease grouped according to gene mutations. Authors: Portala K, Waldenström E, von Knorring L, Westmark K Journal: Ups J Med Sci The clinical value of Tc-99m TRODAT-1 SPECT for evaluating disease severity in young patients with symptomatic and asymptomatic Wilson disease. Authors: Wang P, Hu P, Yue DC, Liang H, Xu JH Journal: Clin Nucl Med Case of pediatric acquired chronic hepatocerebral degeneration. Authors: Papapetropoulos S, Tzakis A, Sengun C, Reddy C, Boukas K, Zitser J, Singer C Journal: Pediatr Neurol Palmar erythema. Authors: Serrao R, Zirwas M, English JC Journal: Am J Clin Dermatol Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. Authors: Mak CM, Lam CW, Tam S, Lai CL, Chan LY, Fan ST, Lau YL, Lai ST, Lai JY, Yuen P, Hui J, Fu CC, Wong KS, Mak WL, Tze K, Tong SF, Lau A, Leung N, Hui A, Cheung KM, Ko CH, Chan YK, Ma O, Chau TN, Chiu A, Chan YW Journal: J Hum Genet [Curcumin attenuated the lipid peroxidation and apoptotic liver injury in copper-overloaded rats] Authors: Wan XH, Li YW, Luo XP Journal: Zhonghua Er Ke Za Zhi Serum selenium concentration in patients with Wilson's disease. Authors: Swiatkowska-Stodulska R, Dejneka W, Jab?o?ska-Kaszewska I, Lukasiak J, Kiszkis H, Wi?niewski P, Lubi?ska M, Sworczak K Journal: Hepatogastroenterology Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins. Authors: Linz R, Lutsenko S Journal: J Bioenerg Biomembr Wilson disease: not just a copper disorder. Analysis of a Wilson disease model demonstrates the link between copper and lipid metabolism. Authors: Huster D, Lutsenko S Journal: Mol Biosyst Successful living-donor liver transplantation for Wilson's disease with hemophagocytic syndrome. Authors: Yokoyama S, Kasahara M, Morioka D, Fukuda A, Arai K, Mori T, Shioda Y, Nakagawa S, Shimizu N, Nakagawa A Journal: Transplantation Persistent akinetic-rigid side effects of neuroleptics may indicate Wilson's disease. Authors: Aschermann Z, Szalay F, Schmidt E, Komoly S, Illés Z Journal: Ideggyogy Sz Liver ischemia and ischemia-reperfusion induces and trafficks the multi-specific metal transporter Atp7b to bile duct canaliculi: possible preferential transport of iron into bile. Authors: Goss JA, Barshes NR, Karpen SJ, Gao FQ, Wyllie S Journal: Biol Trace Elem Res Mitochondrial structure and function in the untreated Jackson toxic milk (tx-j) mouse, a model for Wilson disease. Authors: Roberts EA, Robinson BH, Yang S Journal: Mol Genet Metab Transport of cisplatin by the copper efflux transporter ATP7B. Authors: Safaei R, Otani S, Larson BJ, Rasmussen ML, Howell SB Journal: Mol Pharmacol Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. Authors: Hardman B, Michalczyk A, Greenough M, Camakaris J, Mercer J, Ackland L Journal: Cell Physiol Biochem Medical image. Hepatic Wilson's disease. Authors: Sonmez G, Ozturk E Journal: N Z Med J [Treatment of hepatolenticular degeneration with integrated Chinese and Western medicine] Authors: Yang RM Journal: Zhongguo Zhong Xi Yi Jie He Za Zhi Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease. Authors: Leinweber B, Möller JC, Scherag A, Reuner U, Günther P, Lang CJ, Schmidt HH, Schrader C, Bandmann O, Czlonkowska A, Oertel WH, Hefter H Journal: Mov Disord Epilepsy and inborn errors of metabolism in adults: a diagnostic approach. Authors: Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray JM, Navarro V Journal: J Inherit Metab Dis D-Penicillamine-induced ANCA-associated crescentic glomerulonephritis in Wilson disease. Authors: Bienaimé F, Clerbaux G, Plaisier E, Mougenot B, Ronco P, Rougier JP Journal: Am J Kidney Dis Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Authors: Lepori MB, Lovicu M, Dessi V, Zappu A, Incollu S, Zancan L, Giacchino R, Iorio R, Vajro P, Maggiore G, Marcellini M, Barbera C, Pellecchia MT, Simonetti R, Kostic V, Farci AM, Solinas A, De Virgiliis S, Cao A, Loudianos G Journal: Genet Test Intracellular targeting of copper-transporting ATPase ATP7A in a normal and Atp7b-/- kidney. Authors: Linz R, Barnes NL, Zimnicka AM, Kaplan JH, Eipper B, Lutsenko S Journal: Am J Physiol Renal Physiol The quality of the fragment obtained by liver biopsy for staging chronic hepatitis. Authors: Sporea I, Sirli R, Popescu A, Cornianu M, Manciu C, Foc?a M Journal: J Gastrointestin Liver Dis Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. Authors: de Bie P, van de Sluis B, Burstein E, van de Berghe PV, Muller P, Berger R, Gitlin JD, Wijmenga C, Klomp LW Journal: Gastroenterology Successful treatment of tremor in Wilson's disease by thalamotomy: A case report. Authors: Pal PK, Sinha S, Pillai S, Taly AB, Abraham RG Journal: Mov Disord Developmental expression of Commd1 in the liver of the Jackson toxic milk mouse. Authors: Roberts EA, Lau CH, da Silveira TR, Yang S Journal: Biochem Biophys Res Commun Hepatitis A super infection as a cause of liver failure in a child with Wilson's disease. Authors: Ozçay F, Canan O, Akcan B, Bilezikçi B Journal: Turk J Pediatr Dominant psychiatric manifestations in Wilson's disease: a diagnostic and therapeutic challenge! Authors: Srinivas K, Sinha S, Taly AB, Prashanth LK, Arunodaya GR, Janardhana Reddy YC, Khanna S Journal: J Neurol Sci [A study of the liver pathology and direct sequencing of all exons of WD gene in a patient with fulminant Wilson disease] Authors: He G, Yang X, Luo KZ, Jiang YF, Chen HC, Lü SW Journal: Zhonghua Gan Zang Bing Za Zhi Extreme consumption of Beta vulgaris var. rubra can cause metal ion accumulation in the liver. Authors: Blázovics A, Sárdi E, Szentmihályi K, Váli L, Takács-Hájos M, Stefanovits-Bányai E Journal: Acta Biol Hung Central pontine signal changes in Wilson's disease: distinct MRI morphology and sequential changes with de-coppering therapy. Authors: Sinha S, Taly AB, Ravishankar S, Prashanth LK, Vasudev MK Journal: J Neuroimaging Liver transplantation in Wilson's disease: are its indications established? Authors: Marin C, Robles R, Parrilla G, Ramírez P, Bueno FS, Parrilla P Journal: Transplant Proc Plasmapheresis for hemolytic crisis and impending acute liver failure in Wilson disease. Authors: Asfaha S, Almansori M, Qarni U, Gutfreund KS Journal: J Clin Apher Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. Authors: Ye S, Gong L, Shui QX, Zhou LF Journal: World J Gastroenterol Significance of copper determination in late onset of Wilson's disease. Authors: Lech T, Hydzik P, Kosowski B Journal: Clin Toxicol (Phila) Contribution to the data on copper concentration in blood and urine in patients with Wilson's disease and in normal subjects. Authors: Lech T, Sadlik JK Journal: Biol Trace Elem Res Wilson disease with visceral leishmaniasis: an extremely uncommon presentation. Authors: Pandey K, Sinha PK, Das VN, Kumar N, Verma N, Bimal S, Lal CS, Topno RK, Singh D, Verma RB, Bhattacharya SK, Das P Journal: Am J Trop Med Hyg Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. Authors: Gupta A, Chattopadhyay I, Dey S, Nasipuri P, Das SK, Gangopadhyay PK, Ray K Journal: Cell Mol Neurobiol Copper efflux transporter (ATP7B) contributes to the acquisition of cisplatin-resistance in human oral squamous cell lines. Authors: Yoshizawa K, Nozaki S, Kitahara H, Ohara T, Kato K, Kawashiri S, Yamamoto E Journal: Oncol Rep Withdrawal of penicillamine from zinc sulphate-penicillamine maintenance therapy in Wilson's disease: promising, safe and cheap. Authors: Sinha S, Taly AB Journal: J Neurol Sci Clinical significance of the laboratory determination of low serum copper in adults. Authors: Kumar N, Butz JA, Burritt MF Journal: Clin Chem Lab Med Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. Authors: Barada K, Nemer G, ElHajj II, Touma J, Cortas N, Boustany RM, Usta J Journal: Clin Genet [Whipple's triad as a clinical manifestation of hepatolenticular degeneration] Authors: Krysiak R, Okopie? B Journal: Pol Arch Med Wewn Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. Authors: de Bie P, Muller P, Wijmenga C, Klomp LW Journal: J Med Genet Live donor liver transplantation for acute liver failure. Authors: Kilic M, Aydin U, Noyan A, Arikan C, Aydogdu S, Akyildiz M, Karasu Z, Zeytunlu M, Alper M, Batur Y Journal: Transplantation Cause of death in Wilson disease. Authors: Walshe JM Journal: Mov Disord Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease. Authors: Schmidt HH Journal: Clin Chem Sequential MRI changes in Wilson's disease with de-coppering therapy: a study of 50 patients. Authors: Sinha S, Taly AB, Prashanth LK, Ravishankar S, Arunodaya GR, Vasudev MK Journal: Br J Radiol Split liver transplantation for acute Wilson's disease: new option for urgent recipient? Authors: Andorno E, Miggino M, Panaro F, Morelli N, Bottino G, Casaccia M, Jarzembowski TM, Valente U Journal: Hepatogastroenterology Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. Authors: Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D Journal: J Inherit Metab Dis Wilson's disease in two consecutive generations in a Bulgarian Roma family. Authors: Mihaylova V, Todorov T, Jelev H, Cherninkova S, Raycheva M, Savov A, Kremensky I, Tournev I Journal: J Neurol Sequence variation database for the Wilson disease copper transporter, ATP7B. Authors: Kenney SM, Cox DW Journal: Hum Mutat Silver toxicity masquerading as hypocaeruloplasminaemia. Authors: Tran HA, Song S Journal: Pathology Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test. Authors: Poláková H, Katrincsáková B, Minárik G, Feráková E, Ficek A, Baldovic M, Kádasi L Journal: Gen Physiol Biophys Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Authors: Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK, , Ray K Journal: Clin Chem Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Authors: Xuan A, Bookman I, Cox DW, Heathcote J Journal: J Hepatol Function and regulation of human copper-transporting ATPases. Authors: Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY Journal: Physiol Rev [Chronic acquired hepatocerebral degeneration. Two case reports] Authors: Martín Romano L, Alfredo Femminini R Journal: Neurologia Characterization and structure of a Zn2+ and [2Fe-2S]-containing copper chaperone from Archaeoglobus fulgidus. Authors: Sazinsky MH, LeMoine B, Orofino M, Davydov R, Bencze KZ, Stemmler TL, Hoffman BM, Argüello JM, Rosenzweig AC Journal: J Biol Chem Liver transplantation for metabolic liver diseases. Authors: Zhang KY, Tung BY, Kowdley KV Journal: Clin Liver Dis Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Authors: Park S, Park JY, Kim GH, Choi JH, Kim KM, Kim JB, Yoo HW Journal: Hum Mutat Perspectives for gene therapy of Wilson disease. Authors: Merle U, Stremmel W, Encke J Journal: Curr Gene Ther Sample number and denaturation time are crucial for the accuracy of capillary-based LightCyclers. Authors: von Kanel T, Adolf F, Schneider M, Sanz J, Gallati S Journal: Clin Chem A study on the concentrations of serum zinc, non-ceruloplasmin copper, reactive oxygen and nitrogen species in children with Wilson's disease. Authors: Geetha A, Jeyachristy SA, Selvamathy SM, Ilavarasi S, Surendran R Journal: Clin Chim Acta Polymorphisms in canine ATP7B: Candidate modifier of copper toxicosis in the Bedlington terrier. Authors: Coronado VA, O'neill B, Nanji M, Cox DW Journal: Vet J Non-invasive testing for Wilson disease: revisiting the d-penicillamine challenge test. Authors: Schilsky ML Journal: J Hepatol Biochemical basis of regulation of human copper-transporting ATPases. Authors: Lutsenko S, LeShane ES, Shinde U Journal: Arch Biochem Biophys [Hepatolenticular degeneration: yesterday, today, tomorrow] Authors: Lazebnik LB, Sukhareva GV Journal: Eksp Klin Gastroenterol

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