ApoE and TDP-43 neuropathology in two siblings with familial FTLD-motor neuron disease

Neurocase. 2013;19(3):295-301. doi: 10.1080/13554794.2012.667124. Epub 2012 Apr 18.

Abstract

Frontotemporal lobar degeneration with motor neuron disease (FTLD-MND) is characterized by neuronal cytoplasmic inclusions containing TDP-43. Apolipoprotein E4 (apoE4), derived from the apoE ϵ4 allele, enhances brain atrophy in FTLD through unknown mechanisms. Here, we studied two siblings with C9ORF72-linked familial FTLD-MND, an apoE ϵ4 homozygote and an apoE ϵ3 homozygote. The apoE ϵ4 homozygote had more cognitive-behavioral symptoms, fronto-insulo-temporal atrophy, and apoE fragments and aggregates in the anterior cingulate cortex. ApoE formed complexes with TDP-43 that were more abundant in the apoE ϵ4 homozygote. Although differences seen in a sibling pair could arise due to chance, these findings raise the possibility that apoE4 exacerbates brain pathology in FTLD through formation of neurotoxic apoE fragments and interactions with TDP-43.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apolipoproteins E / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Frontotemporal Lobar Degeneration / complications
  • Frontotemporal Lobar Degeneration / diagnosis
  • Frontotemporal Lobar Degeneration / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / genetics*
  • Neuropsychological Tests
  • Psychiatric Status Rating Scales
  • Siblings

Substances

  • Apolipoproteins E
  • DNA-Binding Proteins