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Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla.

J W Pan1, J B Lane, H Hetherington

  • 1Center for Nuclear Imaging Research, University of Alabama at Birmingham, USA.

Journal of Child Neurology
|August 24, 1999
PubMed
Summary
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Rett syndrome in girls shows altered brain metabolites. This study used 1H spectroscopy to reveal changes in glutamate, creatine, and N-acetylaspartate, supporting in vivo imaging feasibility.

Area of Science:

  • Neuroscience
  • Biochemistry
  • Medical Imaging

Background:

  • Rett syndrome is a neurodevelopmental disorder in girls with developmental regression.
  • Neuropathology indicates abnormal neuronal maturation and neurotransmitter system involvement.
  • Elevated cerebrospinal fluid glutamate and reduced putamen glutamate receptors are noted.

Purpose of the Study:

  • To evaluate brain metabolite levels in Rett syndrome using 1H spectroscopy.
  • To investigate glutamate, creatine, and N-acetylaspartate in vivo.
  • To correlate spectroscopic findings with neuropathologic data.

Main Methods:

  • 1H spectroscopy at 4.1 Tesla was performed.
  • Six girls with Rett syndrome and four healthy sibling controls were studied.

Related Experiment Videos

  • Metabolite ratios (creatine/N-acetylaspartate, glutamate/N-acetylaspartate) were analyzed in gray and white matter.

    • Main Results:

    • Elevated creatine to N-acetylaspartate ratio in white matter, due to reduced N-acetylaspartate.
    • Normal creatine to N-acetylaspartate ratio in gray matter.
    • Elevated glutamate to N-acetylaspartate ratio in gray matter, normal in white matter.

    Conclusions:

    • Spectroscopic findings align with existing neuropathologic and neurochemical data.
    • Reduced N-acetylaspartate in white matter and altered glutamate in gray matter are observed.
    • In vivo 1H spectroscopy is a feasible method for assessing these metabolites in Rett syndrome.