"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene

Mov Disord. 2009 Aug 15;24(11):1706-8. doi: 10.1002/mds.22659.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / physiology
  • Adult
  • Amino Acid Substitution
  • Basal Ganglia / pathology
  • Cation Transport Proteins / genetics*
  • Cation Transport Proteins / physiology
  • Copper / metabolism
  • Copper-Transporting ATPases
  • DNA Mutational Analysis
  • Exons / genetics
  • Genetic Predisposition to Disease
  • Hepatitis C, Chronic / complications
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Heterozygote
  • Humans
  • Hydrophobic and Hydrophilic Interactions
  • Liver Cirrhosis / complications
  • Male
  • Mutation, Missense
  • Penicillamine / adverse effects
  • Penicillamine / therapeutic use
  • Protein Structure, Secondary
  • Thrombocytopenia / chemically induced
  • Trihexyphenidyl / therapeutic use

Substances

  • Cation Transport Proteins
  • Trihexyphenidyl
  • Copper
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases
  • Penicillamine