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Analysis of neocortex in three males with the fragile X syndrome
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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“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).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Hinton et al., 1991
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Metadata
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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