Transactivation response DNA-binding protein 43 microvasculopathy in frontotemporal degeneration and familial Lewy body disease

J Neuropathol Exp Neurol. 2009 Nov;68(11):1167-76. doi: 10.1097/NEN.0b013e3181baacec.

Abstract

We describe novel transactivation response DNA-binding protein of 43 kd (TDP-43)-positive structures in the brains of patients with frontotemporal lobar degeneration with ubiquitin-positive inclusions and familial Lewy body disease. The TDP-43 immunohistochemistry revealed small round structures closely associated with small blood vessels. By immunoelectron microscopy, these TDP-43-positive structures were unmyelinated cell processes located adjacent to and sometimes enclosed by the capillary basal lamina. Some processes protruded from outside of the vascular basal lamina to a position beneath the basal lamina. The processes contained 10- to 17-nm-diameter straight filaments or filaments coated with granular material similar to those described in neurites in frontotemporal lobar degeneration with ubiquitin-positive inclusions and other disorders. In some of the abnormal structures, electron-dense material formed paracrystalline arrays composed of TDP-43. The inclusions were variably positive by immunostaining for the small heat shock protein alphaB-crystallin and less often glial fibrillary acidic protein. Bundles of astrocytic glial fibrils characteristic of reactive astrocytes were often found in proximity, but glial fibrils were negative for TDP-43. These data suggest that these processes are astrocytic end-feet with abnormal TDP-43 fibrillary inclusions. The significance of this novel TDP-43 microvasculopathy on blood-brain barrier integrity warrants further investigation.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Substitution / genetics
  • Blood-Brain Barrier / metabolism
  • Blood-Brain Barrier / pathology
  • Brain / blood supply
  • Brain / metabolism
  • Brain / ultrastructure
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism*
  • Frontotemporal Lobar Degeneration / genetics
  • Frontotemporal Lobar Degeneration / metabolism*
  • Frontotemporal Lobar Degeneration / pathology*
  • Humans
  • Lewy Body Disease / genetics
  • Lewy Body Disease / metabolism*
  • Lewy Body Disease / pathology*
  • Microcirculation* / genetics
  • Mutation
  • Transcriptional Activation* / genetics

Substances

  • DNA-Binding Proteins