| Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. | |
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MedLine Citation:
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PMID: 16250026 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A new tremor-ataxia syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have been described in eight patients with FXTAS and detailed descriptions of the pathological features of this syndrome have been published in two of these. We present a detailed description of the postmortem findings in a third patient. The patient had parkinsonism and was a carrier of a premutation expansion in the FMR1 gene. As in previous reports, the most prominent finding was the presence of eosinophilic nuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and regional vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno- and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical-pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients. |
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Authors:
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Elan Louis; Carol Moskowitz; Michael Friez; Maria Amaya; Jean Paul G Vonsattel |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 21 ISSN: 0885-3185 ISO Abbreviation: Mov. Disord. Publication Date: 2006 Mar |
Date Detail:
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Created Date: 2006-03-15 Completed Date: 2006-08-03 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 420-5 Citation Subset: IM |
Copyright Information:
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(c) 2005 Movement Disorder Society. |
Affiliation:
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Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. EDL2@columbia.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Autonomic Nervous System Diseases / diagnosis*, metabolism* Brain Stem / metabolism, pathology Cerebellum / metabolism, pathology Cerebral Cortex / metabolism, pathology Fatal Outcome Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / diagnosis*, genetics, metabolism* Humans Intranuclear Inclusion Bodies / metabolism* Male Parkinsonian Disorders / diagnosis*, metabolism* Pituitary Gland / metabolism, pathology |
| Grant Support | |
ID/Acronym/Agency:
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R01 NS42859/NS/NINDS NIH HHS; RR00645/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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