Decreased Dendritic Branching in Frontal, Motor and Limbic Cortex in Rett Syndrome Compared with Trisomy 21
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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In Rett syndrome, a severe NDD with specific cognitive and behavioral features, there is a strong PFC hypofunction with structural abnormalities.
“In Rett syndrome, a severe NDD with specific cognitive and behavioral features, there is a strong PFC hypofunction with structural abnormalities [267–269].”
From Development of prefrontal cortex (2022) · cites this paper as [268]
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“Impairments in the length and morphology of dendrites in the frontal cortex are involved in the pathogenesis of cognitive deficits and mental retardation (Armstrong et al., 1998).”
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“RTT patients present with a reduced number of axonal and dendritic processes (Armstrong et al., 1998) and a decrease of the levels of microtubule associated protein 2 (MAP2), a crucial protein for dendritic cytoskeleton.”
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Drosophila as a Model for MECP2 Gain of Function in Neurons
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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…”
BackgroundSherren, N., & Pappas, B. A. (2005) · Neuroscience · doi:10.1016/j.neuroscience.2005.08.053 · Cited by 31 · see citing works
Brain glucose metabolism in Rett Syndrome
Villemagne, P. M., Naidu, S., Villemagne, V. L., Yaster, M., Wagner, H. N., Harris, J. C., Moser, H. W., Johnston, M. V., Dannals, R. F., & Wong, D. F. (2002) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00399-5 · Cited by 31 · see citing works
“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].”
BackgroundLang, 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 · see citing works
“the RTT brain show increased neuronal packing density (6,7) and display diminished levels of dendritic complexity (6,8– 10).”
BackgroundThe 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 30 · see citing works
Impaired hippocampal synaptic function in secretin deficient mice
Yamagata, T., Urano, H., Weeber, E. J., Nelson, D. L., & Nishijima, I. (2008) · Neuroscience · doi:10.1016/j.neuroscience.2008.04.037 · Cited by 28 · see citing works
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 27 · see citing works
MeCP2 post‐translational regulation through PEST domains: two novel hypotheses
Thambirajah, A. A., Eubanks, J. H., & Ausió, J. (2009) · BioEssays · doi:10.1002/bies.200800220 · Cited by 24 · see citing works
“Too little or too much MeCP2 can result in an abnormal neuronal phenotype,((6,7)) altered neuronal function and impaired behavioural performance.”
BackgroundAigner, S., Heckel, T., Zhang, J. D., Andreae, L. C., & Jagasia, R. (2013) · Psychopharmacology · doi:10.1007/s00213-013-3332-1 · Cited by 24 · see citing works
“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).”
BackgroundMeCP2 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 · see citing works
“RTT is characterized by a reduction in perikaryal size and dendritic arborizations with relative preservation of neuronal number and cortical lamination (17,18).”
BackgroundRett 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 · see citing works
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 · see citing works
“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.”
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 · see citing works
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 · see citing works
Self-citationBanine, F., Matagne, V., Sherman, L. S., & Ojeda, S. R. (2011) · Journal of Neuroscience Research · doi:10.1002/jnr.22608 · Cited by 17 · see citing works
“, 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.”
BackgroundInfluentialRett Syndrome: Coming to Terms with Treatment
Percy, A. K. (2014) · Advances in Neuroscience · doi:10.1155/2014/345270 · Cited by 17 · see citing works
“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 · see citing works
Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome
Jain, D., Singh, K., Chirumamilla, S. R., et al. (2010) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2010.02.018 · Cited by 16 · see citing works
“It is thought that reduced neuronal size and dendritic branching of neurons is responsible for the small brains in RTT patients [29,31].”
BackgroundRespiratory Complications After Posterior Spinal Fusion for Neuromuscular Scoliosis
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“poral cortex show shortened basal and apical dendrites [4, 6].”
BackgroundRetractedModeling Williams syndrome with induced pluripotent stem cells
Chailangkarn, T., & Muotri, A. R. (2017) · Neurogenesis · doi:10.1080/23262133.2017.1283187 · Cited by 17 · see citing works
Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
Aldinger, K. A., Timms, A. E., MacDonald, J. W., et al. (2020) · Scientific Data · doi:10.1038/s41597-020-0527-2 · Cited by 16 · see citing works
Leigland, L. A., & Kroenke, C. D. (2010) · Neuromethods · doi:10.1007/978-1-60761-883-6_13 · Cited by 14 · see citing works
Brain-directed autoantibodies levels in the serum of Rett syndrome patients
Klyushnik, T. P., Gratchev, V. V., & Belichenko, P. V. (2001) · Brain and Development · doi:10.1016/s0387-7604(01)00353-9 · Cited by 14 · see citing works
Paradoxical Role of Methyl-CpG-Binding Protein 2 in Rett Syndrome
LaSalle, J. M. (2004) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(04)59003-8 · Cited by 14 · see citing works
Hanson, K. L., Hrvoj-Mihić, B., & Semendeferi, K. (2014) · Brain Behavior and Evolution · doi:10.1159/000365409 · Cited by 13 · see citing works
“…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…”
BackgroundInfluentialNeonatal 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 · see citing works
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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)
- 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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