TDP-43 proteinopathy: the neuropathology underlying major forms of sporadic and familial frontotemporal lobar degeneration and motor neuron disease

Acta Neuropathol. 2007 Jul;114(1):63-70. doi: 10.1007/s00401-007-0226-5. Epub 2007 May 10.

Abstract

The rapid confirmation of the initial report by Neumann et al. (Science 314:130-133, 2006) that transactive response (TAR)-DNA-binding protein 43 (TDP-43) is the major disease protein linking frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) with and without motor neuron disease (MND) as well as amyotrophic lateral sclerosis (ALS) implies that TDP-43 proteinopathy underlies major forms of sporadic as well as familial FTLD and ALS. Not only was the identity of the ubiquitinated proteins that accumulate in neurons and glia of these disorders finally resolved, but it also was shown that pathologic TDP-43 was hyperphosphorylated, ubiquitinated and cleaved to generate C-terminal fragments in affected brain and spinal cord of FTLD-U and ALS. This review summarizes the growing evidence that TDP-43 proteinopathy is the common pathologic substrate linking FTLD and ALS, and it considers the implications of these findings for developing better strategies to diagnose and treat these neurodegenerative disorders.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / metabolism
  • Biomarkers / metabolism
  • DNA-Binding Proteins / metabolism*
  • Dementia / diagnosis
  • Dementia / metabolism*
  • Humans
  • Motor Neuron Disease / diagnosis
  • Motor Neuron Disease / metabolism*

Substances

  • Biomarkers
  • DNA-Binding Proteins