Adult fragile X syndrome: Clinico-neuropathologic findings
Abstract
Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported. The autopsy examination of a 62-year-old, moderately retarded man with the fra (X) syndrome confirmed the preferential involvement of cerebral and testicular structures in this disorder. Dendritic spine abnormalities of the type observed in trisomic chromosomal disorders were associated with synaptic immaturity. Severe testicular hypogonadism accompanied bilateral macro-orchidism, normal penis, and unilateral hydrocele. Valvular, articular, and testicular interstitial compartments showed normal histochemical staining characteristics for glycoproteins and lipids.
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Human fragile X neuropathology shows long spines, reduced PSD length, almost no stubby spines, and increased spine density and length with more immature and fewer mature spines in temporal and visual cortices.
“The first neuropathologic studies in the neocortex of subjects with fragile X syndrome noted the presence of long spines and reduced PSD length, almost no stubby spines and the absence of differences in synaptic vesicle density [305, 389].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [305]
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).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Rudelli et al., 1985
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- Authors
- Rudelli, R. D., Brown, W. T., Wisniewski, K., Jenkins, E. C., Laure-Kamionowska, M., Connell, F., & Wisniewski, H. M.
- Venue
- Acta Neuropathologica
- Published
- 1985
- Volume
- 67
- Issue
- 3-4
- Pages
- 289-295
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- OpenAlex
- W2887318482
- Cited by
- 362
- References
- 50
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 6 · 2023: 9 · 2022: 5 · 2021: 5 · 2020: 10 · 2019: 10 · 2018: 9 · 2017: 11 · 2016: 16 · 2015: 9 · 2014: 21 · 2013: 20 · 2012: 18
- FWCI
- 3.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- fragile X syndrome, developmental disabilities, macroorchidism, hydrocele, brain involvement, glycoproteins, lipids
- MeSH terms
- Brain, Dendrites, Fragile X Syndrome, Golgi Apparatus, Humans, Lymph Nodes, Male, Middle Aged, Sex Chromosome Aberrations, Testis
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.
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