Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy

Virchows Arch. 1995;427(4):415-21. doi: 10.1007/BF00199391.

Abstract

An immunohistochemical and ultrastructural analysis of dystrophic axons (DAs) in the brain and peripheral nerve of a patient with familial infantile neuroaxonal dystrophy (INAD) and in the brain of a patient with familial Hallervorden-Spatz Disease (HSD) revealed prevalent membrano-tubular or granulo-vesicular profiles with a graded pattern of evolution in INAD, while dense bodies, vesicles and amorphous material were present in HSD. DAs immunoreactivity with tai-protein and 200 kDa-neurofilament antibodies was stronger in HSD than in INAD. In both cases immunohistochemistry was positive for ubiquitin and negative for beta-tubulin and beta-amyloid. Distinct ultrastructural features and immunoreactivity pattern of cytoskeletal components suggest different pathogenetic mechanisms.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Axons / chemistry*
  • Axons / ultrastructure*
  • Brain / pathology
  • Child
  • Cytoskeletal Proteins / analysis
  • Female
  • Humans
  • Microscopy, Electron
  • Muscular Dystrophies / pathology*
  • Pantothenate Kinase-Associated Neurodegeneration / pathology*
  • Sural Nerve / pathology

Substances

  • Cytoskeletal Proteins