| Fragile X dementia Parkinsonism Syndrome (FXDPS). | |
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MedLine Citation:
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PMID: 20299862 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND/OBJECTIVE: The fragile X-associated tremor/ataxia syndrome is characterized by intention tremor and ataxia in people who are premutation carriers of the Fragile X gene. Patients with this disorder might also demonstrate signs of dementia with parkinsonian features. We report a patient with dementia and parkinsonian signs who did not demonstrate an intention tremor or gait ataxia. METHODS: A 58-year-old woman who had 2 sons with fragile X retardation syndrome and was a carrier, developed progressive dementia, including impaired memory, executive dysfunction, nonfluent speech, and parkinsonian signs, but had no action-intention tremor and no gait ataxia. Magnetic resonance imaging revealed extensive abnormalities of the white matter. RESULTS: On post-mortem examination, 7 years after this evaluation, she demonstrated extensive subcortical white matter pallor (spongiosis) and widespread ubiquitin-positive intranuclear inclusions in both neurons and in protoplasmic astrocytes characteristic of fragile X-associated tremor/ataxia syndrome, but no spongiosis in the cerebellar peduncles a defining feature of this tremor/ataxia syndrome. CONCLUSIONS: Patients who present with dementia and signs of Parkinson syndrome, even in the absence of ataxia or intention tremor should be evaluated for this fragile X dementia parkinsonism syndrome. |
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Authors:
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Anthony T Yachnis; Heidi L Roth; Kenneth M Heilman |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology Volume: 23 ISSN: 1543-3641 ISO Abbreviation: Cogn Behav Neurol Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-19 Completed Date: 2010-06-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101167278 Medline TA: Cogn Behav Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 39-43 Citation Subset: IM |
Affiliation:
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Department of Neurology, Center for Neuropsychological Studies and Dementia, University of Florida College of Medicine, Gainesville, FL 32610, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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pathology Dementia / complications* Fatal Outcome Female Fragile X Syndrome / complications*, diagnosis, genetics* Hallucinations / diagnosis, etiology Humans Middle Aged Parkinson Disease / complications* |
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