Axonal transport of N-terminal huntingtin suggests early pathology of corticostriatal projections in Huntington disease

J Neuropathol Exp Neurol. 1999 Feb;58(2):165-73. doi: 10.1097/00005072-199902000-00006.

Abstract

Aggregation of N-terminal mutant huntingtin within nuclear inclusions and dystrophic neurites occurs in the cortex and striatum of Huntington disease (HD) patients and may be involved in neurodegeneration. We examined the prevalence of inclusions and dystrophic neurites in the cortex and striatum of 15 adult onset HD patients who had mild to severe striatal cell loss (grades 1, 2 or 3) using an antibody that detects the N-terminal region of huntingtin. Nuclear inclusions were more frequent in the cortex than the striatum and were sparse or absent in the striatum of patients with low-grade striatal pathology. Dystrophic neurites occurred in both regions. Patients with low-grade striatal pathology had numerous fibers with immunoreactive puncta and large swellings within the striatal neuropil, the subcortical white matter, and the internal and external capsules. In the globus pallidus of 3 grade 1 cases, N-terminal huntingtin markedly accumulated in the perinuclear cytoplasm and in some axons but not in the nucleus. Findings suggest that in the earlier stages of HD, accumulation of N-terminal mutant huntingtin occurs in the cytoplasm and is associated with degeneration of the corticostriatal pathway.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Antibody Specificity
  • Axonal Transport / physiology*
  • Biological Transport / physiology
  • Cell Nucleus / chemistry
  • Cell Nucleus / pathology
  • Cerebral Cortex / chemistry
  • Cerebral Cortex / metabolism*
  • Cerebral Cortex / pathology
  • Corpus Striatum / chemistry
  • Corpus Striatum / metabolism*
  • Corpus Striatum / pathology
  • Humans
  • Huntingtin Protein
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Immunohistochemistry
  • Inclusion Bodies / chemistry
  • Inclusion Bodies / pathology
  • Middle Aged
  • Nerve Tissue Proteins / analysis
  • Nerve Tissue Proteins / immunology
  • Nerve Tissue Proteins / metabolism*
  • Neurites / metabolism
  • Neurites / pathology
  • Neurons / metabolism
  • Neurons / pathology
  • Neurons / ultrastructure
  • Nuclear Proteins / analysis
  • Nuclear Proteins / immunology
  • Nuclear Proteins / metabolism*

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins