Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions

Acta Neuropathol. 2004 Jul;108(1):81-7. doi: 10.1007/s00401-004-0855-x. Epub 2004 Apr 27.

Abstract

A 46-year-old patient developed amyotrophic lateral sclerosis (ALS) characterized by rapid progression. She needed respiratory assistance after a course of 9 months. She died 4.5 years after onset. Autopsy showed dramatic atrophy of the spinal cord, sparing only the posterior tracts, associated with neuronal loss and astrogliosis in various areas including the anterior horns, motor cortex, striatum, thalamus, and substantia nigra. Ubiquitin immunohistochemistry showed rare skein-like inclusions in the surviving spinal and medullary motor neurons. Eosinophilic inclusions were found in the nuclei of pyramidal neurons in the hippocampus. These inclusions were immunoreactive to antibodies against ubiquitin, promyelocytic leukemia gene product, proteasome, and ataxin-3. They were not immunoreactive to antibodies against tau, cystatin C, neurofilament, alpha-synuclein, SOD-1, and polyglutamine (1C2), and were not stained by ethidium bromide. Similar inclusions were found in the motor cortex. The immunoreactivity of the inclusions was similar to that encountered in diseases associated with CAG repeats, except for the negativity of the immunolabelling with 1C2. At the ultrastructural level, the nuclear inclusions were made of straight filaments (10-12 nm in diameter) arranged at random, reminiscent of the polyglutamine intranuclear hyaline inclusions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism*
  • Ataxin-3
  • Cysteine Endopeptidases / metabolism
  • Female
  • Hippocampus / pathology*
  • Humans
  • Immunohistochemistry / methods
  • Intranuclear Inclusion Bodies / metabolism*
  • Intranuclear Inclusion Bodies / ultrastructure
  • Microscopy, Electron / methods
  • Middle Aged
  • Multienzyme Complexes / metabolism
  • Neoplasm Proteins / metabolism
  • Nerve Tissue Proteins / metabolism
  • Neurons / metabolism*
  • Neurons / ultrastructure
  • Nuclear Proteins / metabolism
  • Postmortem Changes
  • Promyelocytic Leukemia Protein
  • Proteasome Endopeptidase Complex
  • Repressor Proteins
  • Staining and Labeling
  • Transcription Factors / metabolism
  • Tumor Suppressor Proteins
  • Ubiquitin / metabolism

Substances

  • Multienzyme Complexes
  • Neoplasm Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Promyelocytic Leukemia Protein
  • Repressor Proteins
  • Transcription Factors
  • Tumor Suppressor Proteins
  • Ubiquitin
  • PML protein, human
  • ATXN3 protein, human
  • Ataxin-3
  • Cysteine Endopeptidases
  • Proteasome Endopeptidase Complex