Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation

Neurology. 2004 Nov 23;63(10):1982-3. doi: 10.1212/01.wnl.0000144192.30426.38.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Amino Acid Substitution*
  • Basal Ganglia / pathology*
  • Brain Ischemia / diagnostic imaging
  • Brain Ischemia / etiology*
  • Cation Transport Proteins / genetics*
  • Codon / genetics
  • Copper-Transporting ATPases
  • Dysarthria / etiology*
  • Gait Disorders, Neurologic / etiology*
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / pathology
  • Homozygote
  • Humans
  • Mesencephalon / pathology*
  • Mutation, Missense*
  • Point Mutation*
  • Tomography, X-Ray Computed

Substances

  • Cation Transport Proteins
  • Codon
  • Adenosine Triphosphatases
  • Copper-Transporting ATPases