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An analysis of the ultrastructural findings in infantile neuroaxonal dystrophy (Seitelberger's disease)

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Summary

Electron microscopic findings of a cortical biopsy from a four-year-old child suffering from muscular weakness and psychomotor retardation are presented. Morphological evidence obtained in this study suggests a unique pathogenetic mechanism underlying INAD. The spheroids appear to be caused by an accumulation of a macromolecular substance synthesized in the neuron and transported to the nerve endings. The abnormal substance initially takes the form of an amorphous material, it eventually aggregates into highly characteristic angulated membranous profiles. The selective involvement of the nerve endings, synapses and motor end plates in this disease suggests a derangement of the metabolic pathway in the synthesis or packaging of the neurotransmitters or their receptors.

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Mei Liu, H., Larson, M. & Mizuno, Y. An analysis of the ultrastructural findings in infantile neuroaxonal dystrophy (Seitelberger's disease). Acta Neuropathol 27, 201–213 (1974). https://doi.org/10.1007/BF00687630

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Key words

  • Infantile Neuroaxonal Dystrophy
  • Spheroids
  • Perikaryon
  • Electron Microscopy
  • Membranous Profiles
  • Dense Bodies
  • Protein Syntheses