Neuronal intermediate filaments and ALS: a new look at an old question

Biochim Biophys Acta. Nov-Dec 2006;1762(11-12):1001-12. doi: 10.1016/j.bbadis.2006.09.003. Epub 2006 Sep 12.

Abstract

One of the pathological hallmarks of ALS is the presence of axonal spheroids and perikaryal accumulations/aggregations comprised of the neuronal intermediate filament proteins, neurofilaments and peripherin. These abnormalities represent a point of convergence of both familial and sporadic forms of the disease and understanding their formation may reveal shared pathways in what is otherwise considered a highly heterogeneous disorder. Here we provide a review of the basic biology of neurofilaments and peripherin and the evidence linking them with ALS disease pathogenesis.

Publication types

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

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • Humans
  • Inclusion Bodies / ultrastructure
  • Intermediate Filament Proteins / genetics*
  • Intermediate Filament Proteins / metabolism
  • Intermediate Filaments / genetics*
  • Intermediate Filaments / metabolism
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Mice
  • Mice, Transgenic
  • Motor Neuron Disease / metabolism
  • Motor Neuron Disease / pathology
  • Motor Neurons / metabolism
  • Motor Neurons / pathology*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Neurofilament Proteins / genetics*
  • Peripherins
  • Phosphorylation

Substances

  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • Neurofilament Proteins
  • PRPH protein, human
  • Peripherins