| Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. | |
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MedLine Citation:
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PMID: 17382748 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: We describe the medical course, neuropathology and testicular pathology in 2 men who died with fragile X associated tremor/ataxia syndrome. Fragile X associated tremor/ataxia syndrome, which is a recently described, late onset neurodegenerative disorder, affects up to a third of males and occasionally females older than age 50 years who are carriers of premutation alleles (55 to 200 CGG repeats) of the fragile X mental retardation 1 gene FMR1. Clinical manifestations of premutation status are distinct from those of the full mutation, which is the cause of the fragile X syndrome. MATERIALS AND METHODS: Standard pathological techniques were used to examine the brain, pituitary gland and testicular tissues of 2 males who had fragile X associated tremor/ataxia syndrome. RESULTS: The clinical course of the 2 cases included impotence before the onset of neurological symptoms of tremor and ataxia. Neuropathological findings included eosinophilic intranuclear inclusions in neurons and astrocytes throughout the central nervous system, and in the anterior and posterior pituitary gland of 1 of the 2 men. Inclusions were also seen in the Leydig and myoid cells in the testicles of these 2 men with fragile X associated tremor/ataxia syndrome. CONCLUSIONS: Fragile X associated tremor/ataxia syndrome inclusions are formed in tissues outside of the central nervous system. Involvement of the testicles and the pituitary gland may lead to neuroendocrine dysfunction, including testosterone deficiency. These noncentral nervous system components of fragile X associated tremor/ataxia syndrome require further study. |
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Authors:
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Claudia M Greco; Kultida Soontrapornchai; Juthamas Wirojanan; John E Gould; Paul J Hagerman; Randi J Hagerman |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: The Journal of urology Volume: 177 ISSN: 0022-5347 ISO Abbreviation: J. Urol. Publication Date: 2007 Apr |
Date Detail:
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Created Date: 2007-03-26 Completed Date: 2007-04-30 Revised Date: 2007-12-03 |
Medline Journal Info:
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Nlm Unique ID: 0376374 Medline TA: J Urol Country: United States |
Other Details:
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Languages: eng Pagination: 1434-7 Citation Subset: AIM; IM |
Affiliation:
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Department of Pathology, University of California Davis School of Medicine, Sacramento, California 95817, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Ataxia / pathology* Fatal Outcome Fragile X Syndrome / pathology* Humans Inclusion Bodies / pathology* Male Middle Aged Pituitary Gland / pathology* Testis / pathology* |
| Grant Support | |
ID/Acronym/Agency:
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AG024488/AG/NIA NIH HHS; HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS044299/NS/NINDS NIH HHS; U10/CCU925123//PHS HHS |
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