Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology

Acta Neuropathol. 2009 Jan;117(1):45-53. doi: 10.1007/s00401-008-0443-6. Epub 2008 Oct 16.

Abstract

Recently, sporadic amyotrophic lateral sclerosis (SALS), a fatal neurological disease, has been shown to be a multisystem proteinopathy of TDP-43 in which both neurons and glial cells in the central nervous system are widely affected. In general, the natural history of SALS is short (<5 years). However, it is also known that a few patients may survive for 10 years or more, even without artificial respiratory support (ARS). In the present study using TDP-43 immunohistochemistry, we examined various regions of the nervous system in six patients with SALS of long duration (10-20 years) without ARS, in whom lower motor-predominant disease with Bunina bodies and ubiquitinated inclusions (UIs) in the affected lower motor neurons was confirmed. One case also showed UIs in the hippocampal dentate granule cells (UDG). In all cases, except one with UDG, the occurrence of TDP-43-immunoreactive (ir) neuronal cytoplasmic inclusions (NCIs) was confined to a few regions in the spinal cord and brainstem, including the anterior horns. In one case with UDG, TDP-43-ir NCIs were also detected in the substantia nigra, and some regions of the cerebrum, including the hippocampal dentate gyrus (granule cells). The number of neurons displaying NCIs in each region was very small (1-3 per region, except the dentate gyrus). On the other hand, the occurrence of TDP-43-ir glial cytoplasmic inclusions (GCIs) was more widespread in the central nervous system, including the cerebral white matter. Again, however, the number of glial cells displaying GCIs in each region was very small (1-3 per region). In conclusion, compared to the usual form of SALS, TDP-43 pathology shown in SALS of long duration was apparently mild in degree and limited in distribution, corresponding to the relatively benign clinical courses observed. It is now apparent that SALS of long duration is actually part of a TDP-43 proteinopathy spectrum.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / metabolism*
  • Amyotrophic Lateral Sclerosis / pathology
  • Anterior Horn Cells / metabolism
  • Anterior Horn Cells / pathology
  • Anterior Horn Cells / ultrastructure
  • Autopsy
  • Brain / metabolism
  • Brain / pathology
  • Brain Stem / metabolism
  • Brain Stem / pathology
  • Cerebrum / metabolism
  • Cerebrum / pathology
  • DNA-Binding Proteins / metabolism*
  • Dentate Gyrus / metabolism
  • Dentate Gyrus / pathology
  • Female
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / metabolism*
  • Inclusion Bodies / pathology
  • Male
  • Microscopy, Immunoelectron
  • Middle Aged
  • Neuroglia / metabolism*
  • Neuroglia / pathology
  • Neurons / metabolism*
  • Neurons / pathology
  • Spinal Cord / metabolism
  • Spinal Cord / pathology
  • Substantia Nigra / metabolism
  • Substantia Nigra / pathology
  • Time Factors
  • Ubiquitin / metabolism

Substances

  • DNA-Binding Proteins
  • Ubiquitin