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Quantitative 1H MR spectroscopic imaging in early Rett syndrome
A Horská1, S Naidu, E H Herskovits
1Department of Radiology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. ahorska@mri.jhu.edu
Neurology
|February 19, 2000
Summary
Rett syndrome (RS) shows altered brain metabolism, with higher choline and lower N-acetyl aspartate levels detected noninvasively. These metabolic changes in brain regions may indicate neuronal loss and glial cell activation in RS patients.
Area of Science:
- Neuroscience
- Biochemistry
- Medical Imaging
Background:
- The underlying biochemical defect in Rett syndrome (RS) remains unknown.
- Proton magnetic resonance spectroscopic imaging (1H MRSI) offers a noninvasive method to assess cerebral metabolism.
- MRSI can potentially reveal regional metabolic impairments in RS.
Purpose of the Study:
- To quantify regional concentrations of N-acetyl aspartate (NAA), total choline (Cho), and total creatine (Cr) in Rett syndrome (RS).
- To utilize 1H MRSI for detecting metabolic alterations in the brains of individuals with RS.
Main Methods:
- High-resolution, multislice 1H MRSI was performed on 17 girls diagnosed with RS.
- A control group of nine healthy children was included for comparison.
- Cerebral regional concentrations of key metabolites were analyzed.
Main Results:
- Patients with RS exhibited a 12% higher average Cho concentration and an 11% lower average NAA concentration compared to controls.
- Significantly reduced NAA was observed in frontal gray and white matter, insula, and hippocampus in RS.
- Elevated Cho:NAA ratios and reduced NAA:Cr ratios were found in multiple brain regions in RS patients.
Conclusions:
- Metabolic disturbances in RS affect both gray and white matter, particularly in the frontal, parietal, and insular regions.
- Decreased NAA likely signifies reduced neuronal and dendritic volume.
- Increased Cho concentration may suggest the presence of gliosis in the affected brain areas.