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Cited by 32Tuberous Sclerosis Complex ResearchEpilepsy research and treatmentFetal and Pediatric Neurological Disorders

Cellular Neuropathology of Tuberous Sclerosisa

HUTTENLOCHER, PETER R., WOLLMANN, ROBERT L.·1991·Annals of the New York Academy of Sciences
DOI 10.1111/j.1749-6632.1991.tb37756.x
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Abstract

The study of cerebral lesions of TSC by special histologic methods suggests that two populations of neurons and glia occur in TSC brains. One is a population of normally differentiated cells that form a normally constituted cortical plate. The other is a group of cells that are poorly differentiated, fail to organize into a normal cortical architecture, and form a variety of abnormal cellular aggregates in cortex and in subcortical locations. The proportion of these abnormal cells varies greatly from patient to patient. In some the central nervous system appears to be entirely spared. In others, only one or a few islands of dysplastic cells occur, whereas in still others a large number, perhaps even a majority, of neuroectodermal cells in the forebrain may be affected. The proportion of total cells that undergo abnormal differentiation apparently is an important factor relative to cortical function in TSC. At present we have no explanation for this marked heterogeneity in expression of the TSC gene or genes, and it remains one of the many unsolved mysteries of this illness.

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  • Human TSC neuropathology shows abnormal migration and differentiation of neurons within and proximal to tubers in the cerebral cortex and abnormally large cells with features of neurons or astrocytes or both, indicating a defect in differentiation.

    “Neuropathologic observations in human subjects with TSC indicate abnormal migration and differentiation of neurons within and proximal to the tubers in the cerebral cortex [163] and the presence of abnormally large cells, which show features of either neurons or astrocytes or both, indicating a defect in differentiation [243].”

    From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [163]

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Authors
HUTTENLOCHER, P. R., & WOLLMANN, R. L.
Affiliations
University of Chicago (US)
Corresponding author
HUTTENLOCHER, PETER R.
Venue
Annals of the New York Academy of Sciences
Publisher
Wiley
Published
1991-04
Volume
615
Issue
1
Pages
140-148
ISSN
  • 0077-8923 (ISSN-L)
  • 1749-6632
DOI
10.1111/j.1749-6632.1991.tb37756.x
OpenAlex
W2048205529
Cited by
32
References
16
Citations by year
2024: 1 · 2022: 1 · 2020: 1 · 2017: 1 · 2015: 1 · 2013: 1 · 2012: 1
FWCI
0.50
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 5739 d)
Locations
  • Annals of the New York Academy of Sciences (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Physiology › Tuberous Sclerosis Complex Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords
tuberous sclerosis complex, brain lesions, neuronal differentiation, cortical dysplasia, cortical plate, glial cells, neuroectodermal cells, cortical function
MeSH terms
Brain, Cerebral Cortex, Child, Humans, Microscopy, Electron, Neuroglia, Tuberous Sclerosis

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