A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

Mov Disord. 2017 May;32(5):797-799. doi: 10.1002/mds.26922. Epub 2017 Feb 2.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Protein Complex 4 / genetics*
  • Adolescent
  • Brain / diagnostic imaging
  • Brain / metabolism
  • DNA, Recombinant / genetics*
  • Female
  • Homozygote
  • Humans
  • Iron Metabolism Disorders / diagnostic imaging
  • Iron Metabolism Disorders / genetics*
  • Magnetic Resonance Imaging
  • Neuroaxonal Dystrophies / diagnostic imaging
  • Neuroaxonal Dystrophies / genetics*

Substances

  • AP4S1 protein, human
  • Adaptor Protein Complex 4
  • DNA, Recombinant

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)