Linked Life Data

17179750

Source:http://linkedlifedata.com/resource/pubmed/id/17179750

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-12-20
pubmed:abstractText
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. The principal clinical features of FXTAS include progressive intention tremor, gait ataxia, parkinsonism, and autonomic dysfunction. The disorder affects at least one-third of carrier males over 50 years of age and, with an estimated carrier frequency of approximately 1/800 males, is likely to be one of the most common heritable forms of tremor and ataxia among older adult males in the general population. Brains from all FXTAS cases examined to date (10/10) possess numerous ubiquitin-positive intranuclear inclusions in broad distribution throughout the cerebrum and brainstem. The absence of either the neurodegenerative disorder or inclusions among adults with fragile X syndrome (who lack the FMR1 protein), coupled with elevated FMR1 mRNA with expanded CGG repeats in premutation carriers, has led us to propose an RNA toxic gain-of-function model for FXTAS. Consistent with this model, we have now identified FMR1 mRNA within the intranuclear inclusions isolated from post-mortem (FXTAS) brain tissue.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1555-8584
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
103-5
pubmed:dateRevised
2010-1-15
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
pubmed:affiliation
Department of Biochemistry and Molecular Medicine, University of California, Davis School of Medicine, Davis, California 95616, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural