Selective dendritic alterations in the cortex of Rett syndrome
Abstract
Rett syndrome, the commonest condition associated with severe mental retardation in girls, is diagnosed only by its clinical phenotype, because, to date, there is no consistent characteristic alteration in genetic, biochemical, neurotransmitter or morphologic marker. The clinical features at various ages suggest involvement of most parts of the nervous system, however, the brain in Rett syndrome is reduced in weight, without other obvious morphologic alterations. Because of the relative microcephaly, hypotheses regarding failure of development have been suggested. Supporting such hypotheses are the quantitative studies by Jellinger, Seitelberger and Kitt defining a decrease in the amount of melanin in the substantia nigra and by Bauman defining a global decrease in the size of the neurons. In this study the cerebral cortex has been examined using the rapid Golgi technique with the purpose of investigating dendrites of pyramidal neurons in six cortical regions of Rett girls from ages 2.9-35 years. Camera lucida drawings of apical and basal dendrites of two cortical layers and CA1 were prepared. These were submitted to the Sholl analysis. The Sholl analyses were tested for significance using the repeated measures analysis of covariance, with age as a covariate. The studies demonstrate that from our samples there is no evidence that the pyramidal neurons in Rett syndrome degenerate progressively with increasing age but that the basal dendrites of layers three and five pyramidal…
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RTT patients show abnormal neuronal morphology, but not neuronal death.
“RTT patients show abnormal neuronal morphology, but not neuronal death, giving legitimacy to the possibility that defective MeCP2-deficient cells can recover [144].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [144]
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- Authors
- Armstrong, D., Dunn, J. K., Antalffy, B., & Trivedi, R.
- Affiliations
- Baylor College of Medicine (US)
- Corresponding author
- Armstrong, Dawna
- Venue
- Journal of Neuropathology and Experimental Neurology
- Publisher
- Oxford University Press (OUP)
- Published
- 1995-03
- Volume
- 54
- Issue
- 2
- Pages
- 195-201
- ISSN
- 0022-3069 (ISSN-L)
- OpenAlex
- W2083421199
- Cited by
- 378
- References
- 0
- Citations by year
- 2026: 6 · 2025: 12 · 2024: 9 · 2023: 7 · 2022: 18 · 2021: 14 · 2020: 20 · 2019: 14 · 2018: 8 · 2017: 20 · 2016: 18 · 2015: 15 · 2014: 16 · 2013: 13 · 2012: 25
- FWCI
- 2.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Neuropathology & Experimental Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (2p01hd024234-09a1)
- National Institute on Aging (P30 AG 08017, P30AG008017)
- National Institute of Mental Health (MH.NS 31862)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01 HD 24234-07)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- Rett syndrome, pyramidal neurons, cerebral cortex, dendritic length, Sholl analysis, motor cortex, frontal cortex, subiculum, cortical layers, neurodegeneration, microcephaly, intellectual disability
- MeSH terms
- Adolescent, Adult, Age Factors, Analysis of Variance, Cerebral Cortex, Child, Child, Preschool, Dendrites, Female, Humans, Organ Size, Rett Syndrome
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