The copper metabolism disorder Wilson's disease was first defined in 1912. Wilson's disease can present with hepatic and neurological deficits, including dystonia and parkinsonism. Early-onset presentations in infancy and late-onset manifestations in adults older than 70 years of age are now well recognised. Direct genetic testing for ATP7B mutations are increasingly available to confirm the clinical diagnosis of Wilson's disease, and results from biochemical and genetic prevalence studies suggest that Wilson's disease might be much more common than previously estimated. Early diagnosis of Wilson's disease is crucial to ensure that patients can be started on adequate treatment, but uncertainty remains about the best possible choice of medication. Furthermore, Wilson's disease needs to be differentiated from other conditions that also present clinically with hepatolenticular degeneration or share biochemical abnormalities with Wilson's disease, such as reduced serum ceruloplasmin concentrations. Disordered copper metabolism is also associated with other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations and the late-onset neurodegenerative disorders Alzheimer's disease and Parkinson's disease.
机构:
Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Bharucha, Kersi J.
Friedman, Joyce K.
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Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Friedman, Joyce K.
Vincent, Andrea S.
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Ctr Study Human Operator Performance, Norman, OK USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Vincent, Andrea S.
Ross, Elliott D.
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Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
机构:
Univ Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Ctr Neurosci Cognit, CNRS UMR 5229, F-69675 Bron, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Broussolle, E.
Trocello, J. -M.
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机构:
Hop Lariboisiere, AP HP, Serv Neurol, Ctr Natl Reference Maladie Wilson, F-75010 Paris, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Trocello, J. -M.
Woimant, F.
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h-index: 0
机构:
Hop Lariboisiere, AP HP, Serv Neurol, Ctr Natl Reference Maladie Wilson, F-75010 Paris, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Woimant, F.
Lachaux, A.
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h-index: 0
机构:
Hop Femme Mere Enfant, CHU Lyon, Serv Hepatogastroenterol Pediat, Ctr Natl Reference Maladie Wilson, F-69500 Bron, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Lachaux, A.
Quinn, N.
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h-index: 0
机构:
UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, London WC1N 3BG, EnglandUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
机构:
Gen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Bruha, Radan
Vitek, Libor
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech Republic
Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Vitek, Libor
Marecek, Zdenek
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h-index: 0
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Charles Univ Prague, Cent Mil Hosp, Dept Internal Med, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Marecek, Zdenek
Pospisilova, Lenka
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h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Pospisilova, Lenka
Nevsimalova, Sona
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Nevsimalova, Sona
Martasek, Pavel
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h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Martasek, Pavel
Petrtyl, Jaromir
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Petrtyl, Jaromir
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Urbanek, Petr
Jiraskova, Alena
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Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Jiraskova, Alena
Malikova, Ivana
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h-index: 0
机构:
Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Malikova, Ivana
Haluzik, Martin
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h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 3, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Haluzik, Martin
Ferenci, Peter
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Med Univ Vienna, Dept Internal Med 3, Vienna, AustriaGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Bruha, Radan
Marecek, Zdenek
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Charles Univ Prague, Dept Internal Med, Fac Med 1, Prague 12808 2, Czech Republic
Charles Univ Prague, Cent Mil Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Marecek, Zdenek
Pospisilova, Lenka
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h-index: 0
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Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Pospisilova, Lenka
Nevsimalova, Sona
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Nevsimalova, Sona
Vitek, Libor
论文数: 0引用数: 0
h-index: 0
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Vitek, Libor
Martasek, Pavel
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h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Martasek, Pavel
Nevoral, Jiri
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h-index: 0
机构:
Charles Univ Prague, Dept Pediat, Fac Med 2, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Nevoral, Jiri
Petrtyl, Jaromir
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Petrtyl, Jaromir
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Urbanek, Petr
Jiraskova, Alena
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Jiraskova, Alena
Ferenci, Peter
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h-index: 0
机构:
Med Univ Vienna, Dept Internal Med 3, Vienna, AustriaCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
机构:
Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Bharucha, Kersi J.
Friedman, Joyce K.
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h-index: 0
机构:
Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Friedman, Joyce K.
Vincent, Andrea S.
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h-index: 0
机构:
Ctr Study Human Operator Performance, Norman, OK USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
Vincent, Andrea S.
Ross, Elliott D.
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h-index: 0
机构:
Univ Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USAUniv Oklahoma Hlth Sci, Ctr & Vet Adm, Med Ctr, Dept Neurol, Oklahoma City, OK 73104 USA
机构:
Univ Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Ctr Neurosci Cognit, CNRS UMR 5229, F-69675 Bron, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Broussolle, E.
Trocello, J. -M.
论文数: 0引用数: 0
h-index: 0
机构:
Hop Lariboisiere, AP HP, Serv Neurol, Ctr Natl Reference Maladie Wilson, F-75010 Paris, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Trocello, J. -M.
Woimant, F.
论文数: 0引用数: 0
h-index: 0
机构:
Hop Lariboisiere, AP HP, Serv Neurol, Ctr Natl Reference Maladie Wilson, F-75010 Paris, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Woimant, F.
Lachaux, A.
论文数: 0引用数: 0
h-index: 0
机构:
Hop Femme Mere Enfant, CHU Lyon, Serv Hepatogastroenterol Pediat, Ctr Natl Reference Maladie Wilson, F-69500 Bron, FranceUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
Lachaux, A.
Quinn, N.
论文数: 0引用数: 0
h-index: 0
机构:
UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, London WC1N 3BG, EnglandUniv Lyon 1, Hosp Civils Lyon, Hop Neurol Pierre Wertheimer, Serv Neurol C, F-69500 Bron, France
机构:
Gen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Bruha, Radan
Vitek, Libor
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech Republic
Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Vitek, Libor
Marecek, Zdenek
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Cent Mil Hosp, Dept Internal Med, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Marecek, Zdenek
Pospisilova, Lenka
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Pospisilova, Lenka
Nevsimalova, Sona
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Nevsimalova, Sona
Martasek, Pavel
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Martasek, Pavel
Petrtyl, Jaromir
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h-index: 0
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Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Petrtyl, Jaromir
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机构:
Urbanek, Petr
Jiraskova, Alena
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Jiraskova, Alena
Malikova, Ivana
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Inst Clin Biochem & Lab Diagnost, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Malikova, Ivana
Haluzik, Martin
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 3, Fac Med 1, Prague, Czech RepublicGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
Haluzik, Martin
Ferenci, Peter
论文数: 0引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Internal Med 3, Vienna, AustriaGen Teaching Hosp, Dept Internal Med 4, Prague 12808 2, Czech Republic
机构:
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Bruha, Radan
Marecek, Zdenek
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med, Fac Med 1, Prague 12808 2, Czech Republic
Charles Univ Prague, Cent Mil Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Marecek, Zdenek
Pospisilova, Lenka
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Pospisilova, Lenka
Nevsimalova, Sona
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Neurol, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Nevsimalova, Sona
Vitek, Libor
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Vitek, Libor
Martasek, Pavel
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Lab Mitochondrial Disorders, Dept Pediat, Fac Med 1, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Martasek, Pavel
Nevoral, Jiri
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Pediat, Fac Med 2, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Nevoral, Jiri
Petrtyl, Jaromir
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Petrtyl, Jaromir
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机构:
Urbanek, Petr
Jiraskova, Alena
论文数: 0引用数: 0
h-index: 0
机构:
Charles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech RepublicCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic
Jiraskova, Alena
Ferenci, Peter
论文数: 0引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Internal Med 3, Vienna, AustriaCharles Univ Prague, Dept Internal Med 4, Fac Med 1, Gen Teaching Hosp, Prague 12808 2, Czech Republic