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Peripheral nerve involvement in the Rett syndrome.

K Jellinger1, W Grisold, D Armstrong

  • 1L. Boltzmann Institute of Clinical Neurobiology, Vienna, Austria.

Brain & Development
|January 1, 1990
PubMed
Summary
This summary is machine-generated.

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Rett syndrome (RS) involves mild distal axonopathy, not spinal motor neuron degeneration. This suggests a potential cause for late-onset denervation in affected girls.

Area of Science:

  • Neurology
  • Neuroscience
  • Genetics

Background:

  • Rett syndrome (RS) is a complex neurodevelopmental disorder.
  • Clinical manifestations include motor deficits and autonomic dysfunction.
  • The underlying neuropathology remains incompletely understood.

Purpose of the Study:

  • To investigate the neuropathological basis of motor deficits in Rett syndrome.
  • To differentiate between spinal denervation and peripheral neuropathy.
  • To identify potential causes of denervation in RS patients.

Main Methods:

  • Clinical and neurophysiological assessments in 4 girls with RS.
  • Neuropathological examination of sural nerve biopsies and autopsy tissues.
  • Histological analysis of skeletal muscle.

Related Experiment Videos

  • Microscopic examination of dental pulp axons.

    • Main Results:

    • Patients exhibited foot deformities, brisk reflexes, and calf muscle atrophy.
    • Neurophysiological studies suggested mild distal motor neuropathy.
    • Neuropathology revealed mild distal axonopathy without demyelination.
    • Increased neurofilaments observed in selected axons.
    • Skeletal muscle showed minor sarcoplasmic reticulum alterations, but no neurogenic atrophy.

    Conclusions:

    • Findings do not support spinal motor neuron degeneration in RS.
    • Results suggest a mild distal axonopathy of unknown origin as a cause of denervation.
    • Further research is needed to elucidate the etiology of this distal axonopathy in Rett syndrome.