| A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. | |
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MedLine Citation:
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PMID: 14526182 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is a neurodevelopmental disorder that is not known to have any progressive neurological sequelae in adulthood. However, a neurological condition involving intention tremor, ataxia, and cognitive decline has recently been identified among older male carriers of premutation alleles of the FMR1 gene. This condition is clinically distinct from fragile X syndrome and arises through a different molecular mechanism involving the same gene (FMR1). Characteristic findings on magnetic resonance imaging include cerebral and cerebellar volume loss and altered signal intensities of the middle cerebellar peduncles. A striking feature of this fragile X-associated tremor/ataxia syndrome is the presence of ubiquitin-positive neuronal and astroglial intranuclear inclusions. Unlike the CAG repeat expansion diseases, which lead to altered protein products, there is no known protein abnormality among FMR1 premutation carriers. Thus, inclusion formation may reflect a gain-of-function effect of the FMR1 mRNA or the CGG repeat itself. Finally, since this syndrome may represent one of the more common single-gene causes of tremor, ataxia, and dementia among older males, FMR1 DNA testing should be considered when evaluating adult patients with tremor/ataxia. |
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Authors:
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P J Hagerman; C M Greco; R J Hagerman |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: Cytogenetic and genome research Volume: 100 ISSN: 1424-859X ISO Abbreviation: Cytogenet. Genome Res. Publication Date: 2003 |
Date Detail:
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Created Date: 2003-10-03 Completed Date: 2004-01-30 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 206-12 Citation Subset: IM |
Copyright Information:
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Copyright 2003 S. Karger AG, Basel |
Affiliation:
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Department of Biological Chemistry, University of California School of Medicine, Davis, CA 95616, USA. pjhagerman@ucdavis.edu |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/309550 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cerebellar Ataxia
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complications,
genetics*,
pathology Fragile X Mental Retardation Protein Fragile X Syndrome / genetics* Heterozygote* Humans Magnetic Resonance Imaging Nerve Tissue Proteins / genetics RNA, Messenger / genetics, metabolism RNA-Binding Proteins* Syndrome Tremor / etiology, pathology* Trinucleotide Repeats / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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HD36071/HD/NICHD NIH HHS; HD40661/HD/NICHD NIH HHS; NS43532/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/RNA-Binding Proteins; 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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