Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement

J Neurol Sci. 1991 Jul;104(1):1-8. doi: 10.1016/0022-510x(91)90208-o.

Abstract

The formation of focal granular enlargements within axons (axonal spheroids or "torpedoes"; neuroaxonal dystrophy) is a well known phenomenon occurring in a variety of neurological diseases. The relative susceptibility of different types of neurons to this kind of axonal pathology, however, is largely unknown. An immunocytochemical study directed at localizing glutamic acid decarboxylase (GAD), the synthetic enzyme for the inhibitory neurotransmitter, gamma-aminobutyric acid (GABA), in various CNS regions in feline models of lysosomal storage disorders has revealed vast numbers of axonal spheroids containing this enzyme. In some storage diseases (GM1 and GM2 gangliosidosis), GAD-immunoreactive spheroids were a common occurrence in many brain regions, whereas in other disorders these structures were more limited in distribution (alpha-mannosidosis), or were absent (mucopolysaccharidosis type I). Axonal spheroids unreactive for GAD were encountered in large numbers in subcortical white matter in GM2 gangliosidosis, but were infrequently observed in the other diseases. The incidence and distribution of GAD-immunoreactive spheroids in the various diseases under study were found to correlate closely with the type and degree of neurological deficits exhibited by affected animals. This study indicates that the neuroaxonal dystrophy occurring in some types of storage disorders commonly involves axons of GABAergic neurons and suggests that a resulting defect in neurotransmission in inhibitory circuits may be an important factor underlying brain dysfunction in this family of diseases.

Publication types

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

MeSH terms

  • Animals
  • Axons / physiology*
  • Cats
  • Cerebral Cortex / enzymology
  • Cerebral Cortex / pathology
  • Choline O-Acetyltransferase / analysis
  • Gangliosidosis, GM1 / pathology
  • Glutamate Decarboxylase / analysis
  • Glutamate Decarboxylase / immunology
  • Histocytochemistry
  • Mucopolysaccharidosis I / pathology
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology*
  • Neurons / physiology*
  • Tissue Fixation
  • alpha-Mannosidosis / pathology
  • gamma-Aminobutyric Acid / physiology*

Substances

  • gamma-Aminobutyric Acid
  • Choline O-Acetyltransferase
  • Glutamate Decarboxylase