Neuropathology of Rett syndrome

Armstrong, D. D.

doi:10.1177/08830738050200082401

Cited by 207Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

Neuropathology of Rett syndrome

Armstrong, D. D.·2005·Journal of Child Neurology

DOI 10.1177/08830738050200082401

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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.

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These effects, together with spine elongation, suggest a phenotype of reduced or delayed synapse maturation reminiscent of fragile X, Rett, and Angelman syndrome models.
“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

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“…postmortem morphological analysis of cortical neurons from Rett individuals reveals the degree of dendritic branching, and the length of dendritic processes, to be significantly attenuated from age-matched non-Rett cortical neurons (Armstrong, 1992; Armstrong et al., 1998; Leontovich et al., 1999).”
Background
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Neuropathology of Rett Syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090901 · Cited by 282 · see citing works
Self-citation
Altered trajectories of neurodevelopment and behavior in mouse models of Rett syndrome
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Neuropathology of Rett syndrome
Armstrong, D. D. (2002) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.10027 · Cited by 122 · see citing works
Self-citation
A Critical and Cell-Autonomous Role for MeCP2 in Synaptic Scaling Up
Blackman, M. P., Djukic, B., Nelson, S. B., & Turrigiano, G. G. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.3077-12.2012 · Cited by 136 · see citing works

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)
DOI: 10.1177/08830738050200082401
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

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Neuropathology of Rett syndrome

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