Cerebral proton magnetic resonance spectroscopy in Rett syndrome
Abstract
Combined MRI/MRS studies were performed in 9 girls with Rett syndrome of different ages. NAA, as marker of neuronal tissue, was found to decrease with increasing age. There was no evidence for a defective energy metabolism. The data point towards a probably secondary degenerative process in the pathogenesis of Rett syndrome.
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Changes in neurometabolites associated with cell integrity and membrane turnover have been reported in RTT.
“Changes in brain carbohydrate metabolism [20] and neurometabolites associated with cell integrity and membrane turnover [21,22] have also been reported.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [21]
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Rett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
- Authors
- Hanefeld, F., Christen, H.-J., Holzbach, U., Kruse, B., Frahm, J., & Hänicke, W.
- Affiliations
- University of Göttingen (DE)
- Max Planck Institute for Biophysical Chemistry (DE)
- ORCID
- Frahm, J.
- Venue
- Neuropediatrics
- Publisher
- Georg Thieme Verlag KG
- Published
- 1995-04
- Volume
- 26
- Issue
- 02
- Pages
- 126-127
- ISSN
- 0174-304X (ISSN-L)
- 1439-1899
- OpenAlex
- W2043571884
- Cited by
- 24
- References
- 0
- Citations by year
- 2023: 1 · 2022: 1 · 2021: 1 · 2018: 2 · 2013: 1
- FWCI
- 0.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuropediatrics (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced MRI Techniques and Applications
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Rett syndrome, 1H NMR, N-acetylaspartate, neuronal tissue, brain energy metabolism, age-related changes, secondary degeneration, pathogenesis
- MeSH terms
- Adolescent, Adult, Brain, Child, Female, Humans, Magnetic Resonance Imaging, Nerve Degeneration, Magnetic Resonance Spectroscopy, Severity of Illness Index, Rett Syndrome
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