Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

Brain Res. 1976 Oct 29;116(1):1-21. doi: 10.1016/0006-8993(76)90245-6.

Abstract

Golgi and electron microscope studies of cortical neurons in several lysosomal storage diseases were carried out to elucidate structural features of the large neural processes (meganeurites) that develop as storage sites for accumulated undigestible substrates. Meganeurites occur preferentially in pyramidal neurons wherein they develop between the base of the perikaryon and the initial portion of the axon. They frequently give rise to secondary neurites which bear filopodium-like processes. Meganeurites may possess spines some of which are contacted by presynaptic processes containing synaptic vesicles. The extent of meganeurite development is related to the onset, severity and clinical course of neuronal storage disease. Extensive development of bizarre and pleomorphic meganeurites occurs in classical Tay-Sachs disease (infantile GM2-gangliosidosis, B variant), whereas a smaller proportion of neurons exhibits meganeurites in juvenile GM2-hangliosidosis and Hurler's disease. Meganeurites with spines and spine synapses were prominent in GM2-gangliosidosis, AB variant. It is proposed that meganeurites and meganeurite synapses contribute to the onset and progression of neuronal dysfunction in storage diseases by altering electrical properties of the neuron and modifying integrative operations of somadendritic synaptic inputs.

Publication types

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

MeSH terms

  • Adolescent
  • Biopsy
  • Brain / pathology*
  • Ceroid / metabolism
  • Child
  • G(M2) Ganglioside
  • Gangliosidoses / pathology*
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / pathology*
  • Lipidoses / pathology
  • Lipofuscin / metabolism
  • Male
  • Mucopolysaccharidosis I / pathology*
  • Neurons / pathology
  • Neurons / ultrastructure
  • Pyramidal Tracts
  • Synapses / pathology
  • Synapses / ultrastructure

Substances

  • Ceroid
  • Lipofuscin
  • G(M2) Ganglioside