Cited by 527Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchDown syndrome and intellectual disability research

Analysis of neocortex in three males with the Fragile X syndrome

Hinton, V. J., Brown, W. T., Wisniewski, K., Rudelli, R. D.·1991·American Journal of Medical Genetics

Abstract

Fragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al., Acta Neuropathologica 67:289-295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra-layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II-VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retardation.

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Crossref · 10.1002/ajmg.1320410306

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  • Dendritic spines of neocortical pyramidal neurons of Fragile X syndrome subjects are longer and thinner than those of matched controls, indicating perhaps the spines fail to mature normally in FXS patients.

    “Anatomical studies of post-mortem brains have revealed that dendritic spines of neocortical pyramidal neurons of FXS subjects are longer and thinner than those of matched controls, indicating perhaps the spines fail to mature normally in FXS patients (Hinton et al., 1991; Irwin et al., 2001; Rudelli et al., 1985; Wisniewski et al., 1991).”

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Authors
Hinton, V. J., Brown, W. T., Wisniewski, K., & Rudelli, R. D.
Affiliations
  • Queens College, CUNY (US)
  • Cornell University (US)
Corresponding author
Rudelli, R. D.
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1991-12
Volume
41
Issue
3
Pages
289-294
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
OpenAlex
W2051541374
Cited by
527
References
37
Citations by year
2026: 8 · 2025: 5 · 2024: 7 · 2023: 11 · 2022: 9 · 2021: 13 · 2020: 14 · 2019: 14 · 2018: 12 · 2017: 20 · 2016: 23 · 2015: 20 · 2014: 25 · 2013: 24 · 2012: 24
FWCI
0.43
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
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
fragile X syndrome, neocortex, dendritic spines, Golgi staining, intellectual disability, neuronal density, cingulate cortex, temporal association cortex, male patients, neuropathology
MeSH terms
Adolescent, Adult, Analysis of Variance, Cell Count, Cerebral Cortex, Fragile X Syndrome, Humans, Karyotyping, Male, Intellectual Disability, Middle Aged, Neurons, Pedigree, Staining and Labeling

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