Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus

Mov Disord. 2006 Dec;21(12):2217-20. doi: 10.1002/mds.21121.

Abstract

In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also affected by this mutation. The healthy sister was heterozygous at the same position. Aceruloplasminemia has not yet been reported in China. This case suggests that increased awareness should be paid to this disorder in the presence of the typical symptoms.

Publication types

  • Case Reports

MeSH terms

  • Ceruloplasmin / genetics*
  • Cognition Disorders / etiology
  • Cognition Disorders / genetics*
  • Cognition Disorders / pathology
  • DNA Mutational Analysis / methods
  • Diabetes Complications / complications
  • Diabetes Complications / genetics
  • Exons / genetics
  • Female
  • Homozygote
  • Humans
  • Magnetic Resonance Imaging / methods
  • Middle Aged
  • Movement Disorders / etiology
  • Movement Disorders / genetics*
  • Movement Disorders / pathology
  • Mutation*
  • Serine / genetics
  • Tryptophan / genetics

Substances

  • Serine
  • Tryptophan
  • Ceruloplasmin