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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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“…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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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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