TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease

Acta Neuropathol. 2010 Jul;120(1):43-54. doi: 10.1007/s00401-010-0681-2. Epub 2010 Apr 2.

Abstract

The clinical syndrome of primary progressive aphasia (PPA) can be associated with a variety of neuropathologic diagnoses at autopsy. Thirty percent of cases have Alzheimer disease (AD) pathology, most often in the usual distribution, which defies principles of brain-behavior organization, in that aphasia is not symptomatic of limbic disease. The present study investigated whether concomitant TDP-43 pathology could resolve the lack of clinico-anatomic concordance. In this paper, 16 cases of clinical PPA and 10 cases of primarily non-aphasic frontotemporal dementia (FTD), all with AD pathology, were investigated to determine whether their atypical clinical phenotypes reflected the presence of additional TDP-43 pathology. A comparison group consisted of 27 cases of pathologic AD with the typical amnestic clinical phenotype of probable AD. Concomitant TDP-43 pathology was discovered in only three of the FTD and PPA but in more than half of the typical amnestic clinical phenotypes. Hippocampal sclerosis (HS) was closely associated with TDP-43 pathology when all groups were combined for analysis. Therefore, the clinical phenotypes of PPA and FTD in cases with pathologic AD are only rarely associated with TDP-43 proteinopathy. Furthermore, medial temporal TDP-43 pathology is more tightly linked to HS than to clinical phenotype. These findings challenge the current notions about clinicopathologic correlation, especially about the role of multiple pathologies.

Publication types

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

MeSH terms

  • Aged
  • Alzheimer Disease / genetics
  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology*
  • Aphasia, Primary Progressive / genetics
  • Aphasia, Primary Progressive / metabolism
  • Aphasia, Primary Progressive / pathology*
  • Apolipoprotein E4 / genetics
  • Apolipoprotein E4 / metabolism
  • Brain / metabolism
  • Brain / pathology*
  • DNA-Binding Proteins / metabolism
  • Female
  • Frontotemporal Dementia / genetics
  • Frontotemporal Dementia / metabolism
  • Frontotemporal Dementia / pathology*
  • Gliosis / genetics
  • Gliosis / metabolism
  • Gliosis / pathology
  • Hippocampus / metabolism
  • Hippocampus / pathology
  • Humans
  • Male
  • Middle Aged
  • Neurons / metabolism
  • Neurons / pathology
  • Organ Size
  • Phenotype
  • Sclerosis / genetics
  • Sclerosis / metabolism
  • Sclerosis / pathology
  • TDP-43 Proteinopathies / genetics
  • TDP-43 Proteinopathies / metabolism
  • TDP-43 Proteinopathies / pathology*
  • Temporal Lobe / metabolism
  • Temporal Lobe / pathology

Substances

  • Apolipoprotein E4
  • DNA-Binding Proteins