Cited by 137Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchDown syndrome and intellectual disability research

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Decreased Dendritic Branching in Frontal, Motor and Limbic Cortex in Rett Syndrome Compared with Trisomy 21

Armstrong, Dawna Duncan, Dunn, Kay, Antalffy, Barbara·1998·Journal of Neuropathology and Experimental Neurology

DOI 10.1097/00005072-199811000-00003

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Abstract

The branching of dendrites of pyramidal neurons in premotor frontal, motor and limbic cortex have been identified by us using Golgi technique to be less in Rett Syndrome (RS) brains than in non-Rett control brains. Decreased dendritic branching per se is not pathognomonic of a particular condition and has been reported in numerous disorders associated with mental retardation. This study was designed to test whether the dendritic alterations in Rett Syndrome are the same or different from the alterations present in Down Syndrome (DS), 1 specific form of mental retardation. Sections from Brodmann's areas 6, 4, 20, 43, 28, and 17 of premotor frontal, motor cortex, inferior temporal gyrus, hippocampal formation and the striate cortex from 16 Rett brains, 9 non-Rett brains and 9 Down's brains were prepared for dendrite analysis using the rapid Golgi technique. Drawings of apical and basilar dendrites of pyramidal neurons from 2 cortical layers and Cal were submitted to Sholl analysis. The analyses of Rett brains were compared with the analyses of the Trisomy 21 brains using the repeated measures analysis of covariance, with age as a covariate. The studies demonstrate in our sample that basal dendrites of layer III and V of frontal, layer IV of subiculum, and layer V of motor cortex and apical dendrites of layer III of frontal cortex have a significantly reduced dendritic arborization in RS compared with Trisomy 21. This study suggests that the cortical distribution of the dendritic alterations is specific for Rett Syndrome, and that the premotor frontal, motor and subicular cortex are preferentially involved in the, as yet, undefined process which affects brain growth and function in RS.

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The use of iPSC technology for modeling Autism Spectrum Disorders
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Progress in Rett Syndrome: from discovery to clinical trials
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“Studies of postmortem brain show that RTT is a neuronal disease, resulting in a smaller total brain volume, largely the result of small cell size, and disrupted gross brain morphology, including reduced dendritic arborization (Armstrong et al., 1995, 1998; Armstrong, 2002).”
Patient-Derived Induced Pluripotent Stem Cells (iPSCs) and Cerebral Organoids for Drug Screening and Development in Autism Spectrum Disorder: Opportunities and Challenges
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“Although Mecp2 mouse models recapitulate RTT phenotypes [23,24,25,26,27] and have provided valuable mechanistic insight into neuronal defects caused by Mecp2 mis-regulation, such as axon targeting [28], synaptic [29,30], and dendritic [31] defects, the identification of MECP2 functions and target genes in this system…”
Background
Selective acetylcholine and dopamine lesions in neonatal rats produce distinct patterns of cortical dendritic atrophy in adulthood
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“Classical neuropathologic findings include reduced pigmentation of the substantia nigra, decreased brain weight with a generalized reduction of neuronal size involving the entire cortex, thalamus, basal ganglia, amygdala and hippocampus [9], and dendritic abnormalities [10,11].”
Background
Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice
Lang, M., Wither, R. G., Brotchie, J. M., Wu, C., Zhang, L., & Eubanks, J. H. (2013) · Human Molecular Genetics · doi:10.1093/hmg/dds433 · Cited by 30
“the RTT brain show increased neuronal packing density (6,7) and display diminished levels of dendritic complexity (6,8– 10).”
Background
The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment
Acab, A., & Muotri, A. R. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0354-x · Cited by 31
Impaired hippocampal synaptic function in secretin deficient mice
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Magnetic Nanoparticle‐Assisted Non‐Viral CRISPR‐Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
Cho, H., Yoo, M., Pongkulapa, T., Rabie, H., Muotri, A. R., Yin, P. T., Choi, J., & Lee, K. (2024) · Advanced Science · doi:10.1002/advs.202306432 · Cited by 29
MeCP2 post‐translational regulation through PEST domains: two novel hypotheses
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“Too little or too much MeCP2 can result in an abnormal neuronal phenotype,((6,7)) altered neuronal function and impaired behavioural performance.”
Background
Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish
Aigner, S., Heckel, T., Zhang, J. D., Andreae, L. C., & Jagasia, R. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3332-1 · Cited by 25
“Even prior to the identification of MECP2 as the gene affected in RTT, morphological alterations to neuronal structure had been observed in human postmortem tissue, notably small neuronal size and reduced dendritic arbors in specific cortical areas and layers (Armstrong et al. 1995, 1998).”
Background
MeCP2 involvement in the regulation of neuronal -tubulin production
Abuhatzira, L., Shemer, R., & Razin, A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp048 · Cited by 22
“RTT is characterized by a reduction in perikaryal size and dendritic arborizations with relative preservation of neuronal number and cortical lamination (17,18).”
Background
Rett syndrome: clinical correlates of the newly discovered gene
Percy, A. K. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00350-3 · Cited by 22
Basal Dendritic Morphology of Cortical Pyramidal Neurons in Williams Syndrome: Prefrontal Cortex and Beyond
Hrvoj-Mihic, B., Hanson, K. L., Lew, C. H., Stefanacci, L., Jacobs, B., Bellugi, U., & Semendeferi, K. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00419 · Cited by 21
“In various neurological disorders—ranging from schizophrenia, autism spectrum disorder (ASD), to chromosomal aberrations (Armstrong et al., 1998; Garey et al., 1998; Glantz and Lewis, 2000; Hutsler and Zhang, 2010)—PFC areas tend to display differences between the affected individuals and TDs.”
IRS1 expression in hippocampus is age-dependent and is required for mature spine maintenance and neuritogenesis
Sánchez‐Sarasúa, S., Meseguer-Beltrán, M., Díaz, C. G., Beltrán-Bretones, M. T., Mlili, N. E., & Sánchez‐Pérez, A. M. (2021) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2021.103693 · Cited by 17
Can we relate MeCP2 deficiency to the structural and chemical abnormalities in the Rett brain?
Armstrong, D. D. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.10.009 · Cited by 19
Self-citation
Brain region-specific expression of Fxyd1, an Mecp2 target gene, is regulated by epigenetic mechanisms
Banine, F., Matagne, V., Sherman, L. S., & Ojeda, S. R. (2011) · Journal of Neuroscience Research · doi:10.1002/jnr.22608 · Cited by 17
“, 1997; Belichenko and Dahlstrom, 1995) are largely restricted to selected subregions of the frontal (FC) and motor cortex (Armstrong et al., 1995; Armstrong et al., 1998; Belichenko et al., 1997; Belichenko and Dahlstrom, 1995), despite the abundance of Mecp2 throughout the brain and spinal cord (Mullaney et al.”
BackgroundInfluential
Rett Syndrome: Coming to Terms with Treatment
Percy, A. K. (2014) · Advances in Neuroscience · doi:10.1155/2014/345270 · Cited by 17
“On microscopic assessment, neurons are small and closer together (increased packing density), dendritic arborizations were reduced, and melanin deposition is markedly diminished or absent in the substantia nigra [117].”
Molecular Approaches to the Rett Syndrome Gene
Schanen, N. C. (1999) · Journal of Child Neurology · doi:10.1177/088307389901401207 · Cited by 17
Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome
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“It is thought that reduced neuronal size and dendritic branching of neurons is responsible for the small brains in RTT patients [29,31].”
Background
Respiratory Complications After Posterior Spinal Fusion for Neuromuscular Scoliosis
Cohen, J. L., Klyce, W. B., Kudchadkar, S. R., et al. (2019) · Spine · doi:10.1097/brs.0000000000003075 · Cited by 16
RETRACTED ARTICLE: Neurotrophic effects of Cerebrolysin in the Mecp2308/Y transgenic model of Rett syndrome
Doppler, E., Rockenstein, E. M., Ubhi, K. K., Inglis, C. A., Mante, M., Adame, A., Crews, L. A., Hitzl, M., Moessler, H., & Masliah, E. (2008) · Acta Neuropathologica · doi:10.1007/s00401-008-0407-x · Cited by 16
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Background
Retracted
Modeling Williams syndrome with induced pluripotent stem cells
Chailangkarn, T., & Muotri, A. R. (2017) · Neurogenesis · doi:10.1080/23262133.2017.1283187 · Cited by 18
Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
Aldinger, K. A., Timms, A. E., MacDonald, J. W., McNamara, H. K., Herstein, J. S., Bammler, T. K., Evgrafov, O. V., Knowles, J. A., & Levitt, P. R. (2020) · Scientific Data · doi:10.1038/s41597-020-0527-2 · Cited by 16
A Comparative Analysis of Cellular Morphological Differentiation Within the Cerebral Cortex Using Diffusion Tensor Imaging
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Brain-directed autoantibodies levels in the serum of Rett syndrome patients
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Paradoxical Role of Methyl-CpG-Binding Protein 2 in Rett Syndrome
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“…frontal cortex parietal cortex temporal cortex 12 years, 27 years Williams et al., 1980b RTT frontal cortex temporal cortex occipital cortex 6 – 35 years Armstrong et al., 1998b RTT frontal cortex temporal cortex motor cortex 16 – 24 years Belichenko et al., 1994ac DS frontal cortex temporal…”
BackgroundInfluential
Neonatal 192 IgG-saporin lesion of forebrain cholinergic neurons: focus on the life span?
Pappas, B. A., & Sherren, N. (2003) · Neuroscience & Biobehavioral Reviews · doi:10.1016/s0149-7634(03)00067-8 · Cited by 13
Patho-Epigenetics of Disease
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The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome
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Authors: Armstrong, D. D., Dunn, K., & Antalffy, B.
Affiliations: Baylor College of Medicine (US)
Corresponding author: Armstrong, Dawna Duncan
Venue: Journal of Neuropathology and Experimental Neurology
Publisher: Oxford University Press (OUP)
Published: 1998-11
Volume: 57
Issue: 11
Pages: 1013-1017
ISSN: 0022-3069 (ISSN-L)
DOI: 10.1097/00005072-199811000-00003
OpenAlex: W2052422346
Cited by: 137
References: 0
Citations by year: 2026: 3 · 2025: 3 · 2024: 4 · 2022: 2 · 2021: 4 · 2020: 5 · 2019: 3 · 2018: 3 · 2017: 5 · 2016: 6 · 2015: 5 · 2014: 9 · 2013: 5 · 2012: 11
FWCI: 2.67
Type: journal article
Language: en
Open access: closed
Locations: Journal of Neuropathology & Experimental Neurology (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (2p01hd024234-09a1)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (5 P30 HD24064-09/10-P14, P30HD024064, 2 PO1 HD24234-09/11)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: Rett syndrome, Down syndrome, dendritic branching, pyramidal neurons, frontal cortex, motor cortex, limbic cortex, hippocampal subiculum, primary visual cortex, Sholl analysis, brain growth, intellectual disability
MeSH terms: Adolescent, Adult, Child, Child, Preschool, Dendrites, Down Syndrome, Female, Frontal Lobe, Humans, Limbic System, Motor Cortex, Rett Syndrome

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Decreased Dendritic Branching in Frontal, Motor and Limbic Cortex in Rett Syndrome Compared with Trisomy 21

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