Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions?

Lancet. 1998 Jan 10;351(9096):131-3. doi: 10.1016/S0140-6736(97)08360-8.

Abstract

Neuronal intranuclear inclusions have been found in the brain of a transgenic mouse model of Huntington's disease and in necropsy brain tissue of patients with Huntington's disease. We suggest that neuronal intranuclear inclusions are the common neuropathology for all inherited diseases caused by expansion of polyglutamine repeats. We also suggest that patients with a pathological diagnosis of neuronal intranuclear hyaline inclusion disease may also have polyglutamine repeat expansions.

MeSH terms

  • Animals
  • Brain / ultrastructure*
  • Exons
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Inclusion Bodies / ultrastructure
  • Mice
  • Mice, Transgenic
  • Nerve Tissue Proteins / genetics
  • Neurons / ultrastructure*
  • Nuclear Proteins / genetics
  • Peptides / genetics*
  • Trinucleotide Repeats*

Substances

  • HTT protein, human
  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • polyglutamine