Aceruloplasminemia: Unique Clinical and MRI Findings in a Patient with a Novel Frameshift Mutation

Mov Disord Clin Pract. 2024 Aug;11 Suppl 2(Suppl 2):S14-S16. doi: 10.1002/mdc3.14000. Epub 2024 Feb 23.
No abstract available

Keywords: MRI; NBIA; aceruloplasminemia; basal ganglia cavitation; iron accumulation.

Publication types

  • Case Reports

MeSH terms

  • Ceruloplasmin* / deficiency
  • Ceruloplasmin* / genetics
  • Ceruloplasmin* / metabolism
  • Female
  • Frameshift Mutation*
  • Humans
  • Iron Metabolism Disorders / diagnosis
  • Iron Metabolism Disorders / diagnostic imaging
  • Iron Metabolism Disorders / genetics
  • Iron Metabolism Disorders / pathology
  • Magnetic Resonance Imaging*
  • Male
  • Neurodegenerative Diseases* / diagnosis
  • Neurodegenerative Diseases* / diagnostic imaging
  • Neurodegenerative Diseases* / genetics
  • Neurodegenerative Diseases* / pathology

Substances

  • Ceruloplasmin

Supplementary concepts

  • Familial apoceruloplasmin deficiency