Familial amyotrophic lateral sclerosis with widespread vacuolation and hyaline inclusions

Neurology. 1998 Sep;51(3):871-3. doi: 10.1212/wnl.51.3.871.

Abstract

This report presents a familial amyotrophic lateral sclerosis (FALS) patient with widespread vacuoles and hyaline inclusions strongly immunostained with the anti-superoxide dismutase (SOD1) antibody. The overall pathologic similarity between our non-SOD1-linked FALS patient and transgenic mice expressing a mutated human SOD1 gene suggests that common pathogenetic mechanisms other than an SOD1 mutation exist in the development of these diseases.

Publication types

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

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology*
  • Brain / metabolism
  • Brain / pathology
  • Brain / ultrastructure
  • Fatal Outcome
  • Female
  • Humans
  • Immunohistochemistry
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Neurofilament Proteins / metabolism
  • Pedigree
  • Spinal Cord / pathology
  • Spinal Cord / ultrastructure
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Superoxide Dismutase-1

Substances

  • Neurofilament Proteins
  • SOD1 protein, human
  • Sod1 protein, mouse
  • Superoxide Dismutase
  • Superoxide Dismutase-1