Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study

Neurosci Lett. 1999 Oct 1;273(2):117-20. doi: 10.1016/s0304-3940(99)00656-4.

Abstract

Spinocerebellar ataxia type 2 (SCA2) is associated with an expansion of CAG/polyglutamine-repeat of a gene of unknown function. We performed an immunohistochemical study to identify the immunolocalization of the disease protein ataxin-2 in normal and SCA2 patients. Although normal and expanded ataxin-2 were ubiquitously localized to the cytoplasm of neurons, ubiquitinated intranuclear inclusions were observed selectively in 1-2% of neurons of affected brain regions except the cerebellum. Triple-labeling immunofluorescence revealed that ataxin-2, expanded polyglutamine and ubiquitin were colocalized to these neuronal intranuclear inclusions (NIs), indicating that SCA2 shares morphological characteristics common to other neurological disorders associated with an expansion of CAG/polyglutamine-repeat. Lack of NIs in the cerebellar lesion, however, suggests the discrepancy between formation of NIs and neuronal degeneration in SCA2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxins
  • Cadaver
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / pathology*
  • Nerve Tissue Proteins
  • Neurons / pathology*
  • Peptides / metabolism
  • Proteins / metabolism
  • Reference Values
  • Spinocerebellar Ataxias / metabolism
  • Spinocerebellar Ataxias / pathology*
  • Tissue Distribution
  • Ubiquitins / metabolism

Substances

  • Ataxins
  • Nerve Tissue Proteins
  • Peptides
  • Proteins
  • Ubiquitins
  • polyglutamine