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Cited by 261Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability researchWilliams Syndrome Research

The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities

Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., Rudelli, R. D.·1991·American Journal of Medical Genetics
DOI 10.1002/ajmg.1320380267
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Abstract

We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non‐progressive and non‐focal in character. The mean age for the 55 males was 23.1 years ± 14.3 SD with a range of 2–70: for the 7 females, the mean age was 15.7 years ± 3.5 SD with a range of 10–20 years. Mental retardation (MR) was found in 53 males (8/53 [15.1%] mild, 26/53 [49.1%] moderate, 14/53 [26.4%] severe, and 5/53 [9.4%] profound). Learning disabilities were found in 2/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10/62 (16%) of the patients. Only 14/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA‐postfixed tissue where noted. The mean synaptic contact area was 35% shorter than the normal length observed in controls. In summary, the neurological abnormalities are mainly in the cognitive function, seizures appear similar to the benign age‐related epilepsies, whereas the neuropathological abnormalities are in the wiring system, showing synaptic dysgenesis.

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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 [389]

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Authors
Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., & Rudelli, R. D.
Affiliations
New York State Office for People With Developmental Disabilities (US)
Corresponding author
Wisniewski, K. E.
ORCID
Wisniewski, K. E.
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1991-02
Volume
38
Issue
2-3
Pages
476-480
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
DOI
10.1002/ajmg.1320380267
OpenAlex
W1993755985
Cited by
261
References
42
Citations by year
2025: 4 · 2024: 4 · 2023: 6 · 2022: 7 · 2021: 6 · 2020: 8 · 2019: 8 · 2018: 8 · 2017: 7 · 2016: 5 · 2015: 6 · 2014: 8 · 2013: 12 · 2012: 11
FWCI
2.14
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 5240 d)
Locations
  • American Journal of Medical Genetics (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 › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
fragile X syndrome, intellectual disability, learning disabilities, autism spectrum disorder, seizures, EEG abnormalities, auditory brainstem response, brain atrophy, dendritic spines, neuropathology, neuroimaging abnormalities
MeSH terms
Adolescent, Adult, Aged, Autistic Disorder, Brain, Child, Child, Preschool, Electroencephalography, Female, Fragile X Syndrome, Humans, Learning Disabilities, Male, Intellectual Disability, Middle Aged, Muscle Hypotonia, Seizures

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