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

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

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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Research works printed but not linked: 2

  1. Caviness VS, 1983, Curative Aspects of Mental Retardation, 43
  2. Gingold M, 1989, Normal relative areas of the cerebellar vermis lobules I through V, compared with VI and VII and VIII, Ann Neurol, 26, 454

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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.
ORCID
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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