Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

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

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

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Detection of HIV-1 DNA sequences in pre-ejaculatory fluid.

Lancet (London, England)·1992
Same author

Application of DNA amplification to pneumocystosis: presence of serum Pneumocystis carinii DNA during human and experimentally induced Pneumocystis carinii pneumonia.

The Journal of experimental medicine·1992
Same author

Influence of stress on the healing and relapse of duodenal ulcers. A prospective, multicenter trial of 2109 patients with recurrent duodenal ulceration treated with ranitidine. RUDER Study Group.

Scandinavian journal of gastroenterology·1992
Same author

[Prevention of recurrence of ulcer disease: indications and choice of procedure].

Therapeutische Umschau. Revue therapeutique·1992
Same author

Evaluation of new anti-infective drugs for the treatment of febrile episodes in neutropenic patients. Infectious Diseases Society of America and the Food and Drug Administration.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·1992
Same author

Presbycusis: correlations of clinical audiology with morphological changes in the cochlea and the ventral cochlear nucleus.

The Journal of otolaryngology·1992

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.
  • 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.

Related Experiment Videos