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

Rett syndrome: neurobiological changes underlying specific symptoms

G L Wenk1

  • 1Department of Psychology, University of Arizona, Tucson 85724, USA. gary@nsma.arizona.edu

Progress in Neurobiology
|March 1, 1997
PubMed
Summary

Rett syndrome (RS) is a rare neurodevelopmental disorder primarily affecting females, characterized by arrested brain development. Research suggests a primary deficit in cholinergic function may explain cognitive and motor impairments in Rett syndrome.

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

Rapamycin inhibits mTOR/p70S6K activation in CA3 region of the hippocampus of the rat and impairs long term memory.

Neurobiology of learning and memory·2016
Same author

Differential rescue of spatial memory deficits in aged rats by L-type voltage-dependent calcium channel and ryanodine receptor antagonism.

Neuroscience·2014
Same author

Assessment of spatial memory.

Current protocols in toxicology·2010
Same author

[(3)H]ketanserin binding increases in monkey cortex following basal forebrain lesions with ibotenic acid.

Neurochemistry international·2010
Same author

New neuron production can be increased in the hippocampus of aged rats following cannabinoid treatment.

Molecular psychiatry·2009
Same author

Cannabinoid agonist WIN-55,212-2 partially restores neurogenesis in the aged rat brain.

Molecular psychiatry·2009

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RS) is a progressive neurological disorder predominantly affecting females.
  • Characterized by cortical atrophy, stereotyped hand movements, severe mental deficiency, and motor dysfunction.
  • The exact cause of RS remains unknown, with no consistent genetic or cellular abnormalities identified.

Purpose of the Study:

  • To investigate the underlying neuropathological and biochemical deficits in Rett syndrome.
  • To explore potential causes for arrested neuronal development in RS.
  • To identify key neural systems affected in the early postnatal period.

Main Methods:

  • Neuropathological examination of brain tissue, including assessment of atrophy, neuronal size, and cell packing density.

Related Experiment Videos

  • Analysis of specific neuronal populations, such as basal forebrain cholinergic neurons and substantia nigra neurons.
  • Biochemical analysis of neurotransmitter markers (cholinergic, biogenic amines, endorphins, glutamate) in post-mortem tissues and cerebrospinal fluid (CSF).

    • Main Results:

    • Confirmed generalized brain atrophy and decreased neuronal size with increased cell density.
    • Identified reductions in basal forebrain cholinergic neurons and melanin-containing neurons in the substantia nigra.
    • Revealed decreased cholinergic markers, variable biogenic amine changes, elevated thalamic beta-endorphin, and elevated CSF glutamate, with no evidence of mitochondrial dysfunction.

    Conclusions:

    • The findings suggest a primary deficit in cholinergic function in Rett syndrome, potentially underlying cognitive and extrapyramidal impairments.
    • Rett syndrome is characterized as a neurodevelopmental disorder impacting specific neural systems during early postnatal development.
    • Further research into cholinergic pathways is warranted to understand and potentially treat Rett syndrome.