The neurobiologie consequences of down syndrome

J. T. Coyle, M. L. Oster-Granite, J. D. Gearhart

Research output: Contribution to journalArticle

Abstract

Trisomy of the whole or distal part of human chromosome 21 (HSA 21) (Ts21) results in Down Syndrome (DS), which is characterized in part by mental retardation and associated neurological abnormalities. Structural abnormalities observed frequently include reduced brain weight, decreased number and depth of sulci in the cerebral cortices, neuronal heterotopias, and reduced numbers of specific populations of neurons, such as granule cells, in the cerebral cortices. Abnormalities in the structure of cells, primarily of the dendrites, are observed in portions of the neuraxis, such as the hippocampus, cerebellum, and cerebral cortices. Functional abnormalities in membrane properties in peripheral structures and in neurotransmitter enzyme systems in both peripheral and central structures are observed also. Brains of DS individuals over the age of 40 exhibit the characteristic neuropathologic and neurochemical stigmata of Alzheimer's disease (AD). The cholinergic and noradrenergic systems appear to be particularly vulnerable. To elucidate the mechanisms responsible for these abnormalities, identification of the genes located in the distal part of HSA 21 and the systematic study of animal model systems with close genetic homology are essential.

Original languageEnglish (US)
Pages (from-to)773-787
Number of pages15
JournalBrain Research Bulletin
Volume16
Issue number6
DOIs
StatePublished - 1986

Keywords

  • Alzheimer's disease (senile dementia of the Alzheimer type)
  • Cholinergic neurons
  • Down Syndrome
  • Human trisomy 21
  • Mental retardation
  • Noradrenergic neurons

ASJC Scopus subject areas

  • Neuroscience(all)

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    Coyle, J. T., Oster-Granite, M. L., & Gearhart, J. D. (1986). The neurobiologie consequences of down syndrome. Brain Research Bulletin, 16(6), 773-787. https://doi.org/10.1016/0361-9230(86)90074-2