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

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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

DOI 10.1002/ajmg.1320410306

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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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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.
ORCID: Hinton, V. J.
Wisniewski, K.
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
DOI: 10.1002/ajmg.1320410306
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 4933 d)
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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Analysis of neocortex in three males with the fragile X syndrome

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