Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome
| Autor: | John F Shuler, Michael R. Hunsaker, Celestine S. Navarro, Claudia M. Greco, Jacky Au, Cynthia M. Schumann, Randi J Hagerman, Mary Delany, Lee-Way Jin, Robert F. Berman, Izumi Maezawa, Paul J. Hagerman, Flora Tassone |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Cerebellum
congenital hereditary and neonatal diseases and abnormalities Hippocampus Neuropathology lcsh:RC346-429 White matter 03 medical and health sciences 0302 clinical medicine Limbic system Developmental Neuroscience medicine Molecular Biology lcsh:Neurology. Diseases of the nervous system 030304 developmental biology 0303 health sciences Dentate gyrus Research medicine.disease Fragile X syndrome Psychiatry and Mental health medicine.anatomical_structure nervous system Cerebellar vermis Psychology Neuroscience 030217 neurology & neurosurgery Developmental Biology |
| Zdroj: | Molecular Autism Molecular Autism, Vol 2, Iss 1, p 2 (2011) Greco, Claudia M; Navarro, Celestine S; Hunsaker, Michael R; Maezawa, Izumi; Shuler, John F; Tassone, Flora; et al.(2011). Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome. Molecular Autism, 2(1), 2. doi: http://dx.doi.org/10.1186/2040-2392-2-2. Retrieved from: http://www.escholarship.org/uc/item/0nz2332g |
| ISSN: | 2040-2392 |
| DOI: | 10.1186/2040-2392-2-2. |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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