Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
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Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the most common single-gene disorder known to be associated with autism. Despite recent advances in functional neuroimaging and our understanding of the molecular pathogenesis, only limited neuropathologic information on FXS is available. Methods: Neuropathologic examinations were performed on post-mortem brain tissue from three older men (aged 57, 64 and 78 years) who had received a clinical or genetic diagnosis of FXS. In each case, physical and cognitive features were typical of FXS, and one man was also diagnosed with autism. Guided by reports of clinical and neuroimaging abnormalities of the limbic system and cerebellum of individuals with FXS, the current analysis focused on neuropathologic features present in the hippocampus and the cerebellar vermis. Results: Histologic and immunologic staining revealed abnormalities in both the hippocampus and cerebellar vermis. Focal thickening of hippocampal CA1 and irregularities in the appearance of the dentate gyrus were identified. All lobules of the cerebellar vermis and the lateral cortex of the posterior lobe of the cerebellum had decreased numbers of Purkinje cells, which were occasionally misplaced, and often lacked proper orientation. There were mild, albeit excessive, undulations of the internal granular cell layer, with patchy foliar white matter axonal and astrocytic abnormalities. Quantitative analysis documented panfoliar atrophy of both the anterior and posterior lobes of the vermis, with preferential atrophy of the posterior lobule (VI to VII) compared with age-matched normal controls. Conclusions: Significant morphologic changes in the hippocampus and cerebellum in three adult men with FXS were identified. This pattern of pathologic features supports the idea that primary defects in neuronal migration, neurogenesis and aging may underlie the neuropathology reported in FXS.
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In syndromic cases where genetic information was assessed, cases were rarely separated based on presence or absence of ASD or only qualitative neuropathology was provided.
“In the syndromic cases where genetic information was assessed, cases were rarely separated based on presence or absence of ASD or only qualitative neuropathology was provided [128, 340].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [128]
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- Authors
- Greco, C. M., Navarro, C. S., Hunsaker, M. R., Maezawa, I., Shuler, J. F., Tassone, F., Delany, M., Au, J. W., Berman, R. F., Jin, L.-W., Schumann, C., Hagerman, P. J., & Hagerman, R. J.
- Affiliations
- University of California Davis Medical Center (US)
- University of California, Davis (US)
- Elwyn (US)
- Corresponding author
- Hagerman, Randi J
- ORCID
- Venue
- Molecular Autism
- Published
- 2011-02-08
- Volume
- 2
- Issue
- 1
- Pages
- 2-2
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC3045897
- OpenAlex
- W2117003462
- Cited by
- 90
- References
- 61
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 6 · 2022: 9 · 2021: 5 · 2020: 4 · 2019: 2 · 2018: 7 · 2017: 6 · 2016: 6 · 2015: 2 · 2014: 3 · 2013: 13 · 2012: 7
- FWCI
- 6.38
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Molecular Autism (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Fragile X Foundation
- National Institutes of Health (DE019583, HD02274, RR024146)
- National Institute on Aging (RL1AG032119, RL1AG032115)
- National Institute of Mental Health (K23MH077554, R01MH078041)
- National Institute of Dental and Craniofacial Research (UL1DE019583)
- National Center for Research Resources (HD02274, AG032115, AG032119, HD036071, MH078041, UL1RR024146, DE019583)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD036071)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, hippocampus, cerebellar vermis, neuropathology, Purkinje cell degeneration, dentate gyrus, neuronal migration defects, neurogenesis, aging, autism spectrum disorder, intellectual disability, postmortem brain
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