Wilson's disease and other neurological copper disorders

被引:765
作者
Bandmann, Oliver [1 ]
Weiss, Karl Heinz [2 ]
Kaler, Stephen G. [3 ]
机构
[1] Univ Sheffield, Sheffield Inst Translat Neurosci SITraN, Sheffield S10 2HQ, S Yorkshire, England
[2] Univ Heidelberg Hosp, Dept Internal Med 4, Heidelberg, Germany
[3] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Translat Neurosci, Program Mol Med, NIH, Bethesda, MD USA
基金
美国国家卫生研究院;
关键词
LIVER-TRANSPLANTATION; PARKINSONS-DISEASE; ATP7B GENE; BRAIN MRI; FOLLOW-UP; MUTATIONS; ONSET; IRON; SYMPTOMS; DYSTONIA;
D O I
10.1016/S1474-4422(14)70190-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:103 / 113
页数:11
相关论文
共 112 条
  • [1] Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
    Ala, A
    Borjigin, J
    Rochwarger, A
    Schilsky, N
    [J]. HEPATOLOGY, 2005, 41 (03) : 668 - 670
  • [2] Wilson's disease
    Ala, Aftab
    Walker, Ann P.
    Ashkan, Keyoumars
    Dooley, James S.
    Schilsky, Michael L.
    [J]. LANCET, 2007, 369 (9559) : 397 - 408
  • [3] Ceruloplasmin dysfunction and therapeutic potential for Parkinson disease
    Ayton, Scott
    Lei, Peng
    Duce, James A.
    Wong, Bruce X. W.
    Sedjahtera, Amelia
    Adlard, Paul A.
    Bush, Ashley I.
    Finkelstein, David I.
    [J]. ANNALS OF NEUROLOGY, 2013, 73 (04) : 554 - 559
  • [4] Lower serum ceruloplasmin levels correlate with younger age of onset in Parkinson's disease
    Bharucha, Kersi J.
    Friedman, Joyce K.
    Vincent, Andrea S.
    Ross, Elliott D.
    [J]. JOURNAL OF NEUROLOGY, 2008, 255 (12) : 1957 - 1962
  • [5] Bioinorganic Chemistry of Parkinson's Disease: Structural Determinants for the Copper-Mediated Amyloid Formation of Alpha-Synuclein
    Binolfi, Andres
    Rodriguez, Esau E.
    Valensin, Daniela
    D'Amelio, Nicola
    Ippoliti, Emiliano
    Obal, Gonzalo
    Duran, Rosario
    Magistrato, Alessandra
    Pritsch, Otto
    Zweckstetter, Markus
    Valensin, Gianni
    Carloni, Paolo
    Quintanar, Liliana
    Griesinger, Christian
    Fernandez, Claudio O.
    [J]. INORGANIC CHEMISTRY, 2010, 49 (22) : 10668 - 10679
  • [6] Treatment of Wilson's disease with tetrathiomolybdate: V. control of free copper by tetrathiomolybdate and a comparison with trientine
    Brewer, George J.
    Askari, Fred
    Dick, Robert B.
    Sitterly, Julia
    Fink, John K.
    Carlson, Martha
    Kluin, Karen J.
    Lorincz, Matthew T.
    [J]. TRANSLATIONAL RESEARCH, 2009, 154 (02) : 70 - 77
  • [7] Treatment of Wilson's disease with zinc: XV - Long-term follow-up studies
    Brewer, GJ
    Dick, RD
    Johnson, VD
    Brunberg, JA
    Kluin, KJ
    Fink, JK
    [J]. JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1998, 132 (04): : 264 - 278
  • [8] Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology
    Broussolle, E.
    Trocello, J. -M.
    Woimant, F.
    Lachaux, A.
    Quinn, N.
    [J]. REVUE NEUROLOGIQUE, 2013, 169 (12) : 927 - 935
  • [9] Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms
    Bruha, Radan
    Vitek, Libor
    Marecek, Zdenek
    Pospisilova, Lenka
    Nevsimalova, Sona
    Martasek, Pavel
    Petrtyl, Jaromir
    Urbanek, Petr
    Jiraskova, Alena
    Malikova, Ivana
    Haluzik, Martin
    Ferenci, Peter
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 (03) : 541 - 548
  • [10] Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
    Bruha, Radan
    Marecek, Zdenek
    Pospisilova, Lenka
    Nevsimalova, Sona
    Vitek, Libor
    Martasek, Pavel
    Nevoral, Jiri
    Petrtyl, Jaromir
    Urbanek, Petr
    Jiraskova, Alena
    Ferenci, Peter
    [J]. LIVER INTERNATIONAL, 2011, 31 (01) : 83 - 91