The DOI matches its Crossref record.
Neuropathology of Rett Syndrome
Abstract
The neuropathology of the Rett syndrome is summarized utilizing a format of clinical pathological correlations, describing the pathology at specific anatomic sites which could correlate with the well defined clinical signs and symptoms in the Rett syndrome; decreased head and body size, autism, gait dysfunction, spasticity, movement and breathing disorder. Published reports of altered morphology in the cerebral cortex, basal ganglia, substantia nigra, cerebellum, spinal cord, muscle, nerve, pituitary gland and somatic organs are supplemented by the author's observations. These include studies of dendritic morphology employing Scholl analysis of Golgi preparation, and quantitation of cerebellar Purkinje cells. The possible pathoetiology of the Rett syndrome is considered, particularly, in relation to the ultrastructural demonstration of altered mitochondria and accumulations of lipidic bodies in several tissues.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“These effects, together with spine elongation, suggests a phenotype of reduced or delayed synapse maturation that is reminiscent of the phenotypes observed in mouse models of fragile X syndrome (Comery et al., 1997; Irwin et al., 2001), Rett syndrome (Armstrong, 2005; Belichenko et al., 2009; Chao et al., 2007), and Angelman syndrome (Dindot et al., 2008; Sato and Stryker, 2010; Yashiro et al., 2”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Armstrong, 2005
Citations
Cited by
Sorted by citations
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Dendritic Spine Structural Anomalies in Fragile-X Mental Retardation Syndrome
Irwin, S. A. (2000) · Cerebral Cortex · doi:10.1093/cercor/10.10.1038 · Cited by 626
Cerebral plasticity: windows of opportunity in the developing brain
Ismail, F. Y., Fatemi, A., & Johnston, M. V. (2017) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2016.07.007 · Cited by 572
Modeling Autism by SHANK Gene Mutations in Mice
Jiang, Y.-H., & Ehlers, M. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.016 · Cited by 488
A role for glia in the progression of Rett’s syndrome
Lioy, D. T., Garg, S. K., Monaghan, C. E., Raber, J., Foust, K. D., Kaspar, B. K., Hirrlinger, P. G., Kirchhoff, F., Bissonnette, J. M., Ballas, N., et al. (2011) · Nature · doi:10.1038/nature10214 · Cited by 496
Metadata
- Authors
- Armstrong, D. D.
- Corresponding author
- Armstrong, D. D.
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 2005-08-01
- Volume
- 20
- Issue
- 8
- Pages
- 747-753
- ISSN
- 0883-0738 (ISSN-L)
- OpenAlex
- W2397166584
- Cited by
- 207
- References
- 0
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 3 · 2023: 4 · 2022: 8 · 2021: 7 · 2020: 10 · 2019: 7 · 2018: 6 · 2017: 8 · 2016: 11 · 2015: 9 · 2014: 16 · 2013: 12 · 2012: 14
- FWCI
- 2.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- Funders
- National Institute of Mental Health (MH31892)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
- Keywords
- Rett syndrome, neuropathology, clinicopathological correlation, cerebral cortex morphology, basal ganglia, substantia nigra, cerebellum, spinal cord, muscle pathology, pituitary gland, dendritic morphology, Purkinje cells, mitochondrial ultrastructure, autism spectrum disorder, spasticity, gait disturbance
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
