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Cited by 285Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Pyramidal cell abnormalities in the motor cortex of a child with Down's syndrome. A Golgi study

Marin‐Padilla, Miguel·1976·Journal of Comparative Neurology
DOI 10.1002/cne.901670105
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Abstract

The neuronal organization of the motor cortex of a 19‐month old child with Down's syndrome (mongolism) has been studied with the rapid Golgi method. This congenital syndrome, also known as 21 Trisomy is caused by a chromosomal abnormality consisting of the presence of an extra chromosome in the group 21. Various structural abnormalities have been found in the dendritic spines (postsynaptic structures) of the pyramidal neurons of the motor cortex of this child. The axo‐spinous synapses of these neurons are considered to be altered by these spine abnormalities. In addition, a peculiar form of intrinsic vacuolar change affecting the dendrites and scattered neuronal fragmentation and necrosis have also been found. At least three different types of abnormality involving the spines — (the unusually long spine, the very short spine and a reduction in the number of spines) — are recognized among the pyramidal cells of the motor cortex. It is postulated herein: that a basic anomaly, possibly related to the genetic disorder affects primarily some cortical neurons which undergo progressive degenerative changes terminating in cell fragmentation and death. The different spine abnormalities are considered to represent various developmental stages of the common genetic anomaly. These changes might be structural correlates of the motor incoordination and mental retardation which are characteristic of this genetic disorder, but, final conclusions should await the investigation of other cases with this or similar methods capable of demonstrating the normal as well as the abnormal structural organization of the human cerebral cortex.

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  • In all human chromosomal aberration syndromes, including trisomies, monosomies, polyploidies, disomies and imprinting errors or sex chromosome anomalies, structural abnormalities of (pre)frontal as well as many other areas are common.

    “In all human chromosomal aberration syndromes, including trisomies, monosomies (e.g., Turner syndrome, monosomy 1p36), polyploidies, disomies and imprinting errors or sex chromosome anomalies, structural abnormalities of (pre)frontal as well as many other areas are common [61, 288–292].”

    From Development of prefrontal cortex (2022) · cites this paper as [292]

  • These differences are present across the cortical laminae.

    “These differences are present across the cortical laminae115–118.”

    From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [116]

  • The spines that are present in Down syndrome exhibit morphological anomalies, such as abnormally small and exceptionally long, thin spines.

    “Moreover, the spines that are present exhibit morphological anomalies, such as abnormally small and exceptionally long, thin spines115–118 (Fig. 3a).”

    From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [116]

  • The earliest reports using Golgi staining of human brain tissue provided consistent evidence that newborns and infants with Down syndrome have substantial deficits in spine density and abnormal spine morphology.

    “The earliest reports using Golgi staining of human brain tissue provided consistent evidence that newborns and infants with DS have substantial deficits in spine density and abnormal spine morphology115–118.”

    From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [116]

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Authors
Marin‐Padilla, M.
Venue
Journal of Comparative Neurology
Publisher
Wiley
Published
1976-05
Volume
167
Issue
1
Pages
63-81
ISSN
  • 0021-9967 (ISSN-L)
  • 1096-9861
DOI
10.1002/cne.901670105
OpenAlex
W2144620740
Cited by
285
References
30
Citations by year
2026: 3 · 2025: 4 · 2024: 10 · 2023: 3 · 2022: 7 · 2021: 7 · 2020: 2 · 2019: 6 · 2018: 9 · 2017: 8 · 2016: 9 · 2015: 7 · 2014: 10 · 2013: 13 · 2012: 8
FWCI
3.89
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 10388 d)
Locations
  • The Journal of Comparative Neurology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords
Down syndrome, motor cortex, pyramidal neurons, dendritic spines, neuronal necrosis, motor incoordination, intellectual disability
MeSH terms
Dendrites, Down Syndrome, Female, Humans, Infant, Motor Cortex

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