Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain

Neuroradiology. 1999 Mar;41(3):185-7. doi: 10.1007/s002340050730.


We present two patients with hypocaeruloplasminaemia and a heteroallelic caeruloplasmin gene mutation (HypoCPGM). These patients had diabetes mellitus and tremor of the hands, respectively. T2-weighted fast spin-echo MRI showed mildly reduced intensity of the putamen, much more marked on echo-planar imaging.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Ceruloplasmin / deficiency*
  • Ceruloplasmin / genetics*
  • Diabetes Mellitus
  • Echo-Planar Imaging*
  • Female
  • Humans
  • Male
  • Point Mutation*
  • Putamen / pathology*
  • Tremor


  • Ceruloplasmin