Linked Life Data

18565783

Source:http://linkedlifedata.com/resource/pubmed/id/18565783

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-26
pubmed:abstractText
Premutation carriers of repeat expansions in the fragile X mental retardation (FMR1) gene develop kinetic tremor and ataxia or the 'fragile X associated tremor/ataxia syndrome' (FXTAS). Affected FMR1 premutation carriers also have parkinsonism, but have not been reported to meet criteria for Parkinson disease. This case series illustrates that some patients who are FMR1 premutation carriers may appear by history and examination to have idiopathic Parkinson disease. Based on previous studies, it is likely that the genetic mutation and parkinsonism are associated. Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1353-8020
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
156-9
pubmed:dateRevised
2011-8-8
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.
pubmed:affiliation
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA. deborah.hall@uchsc.edu
pubmed:publicationType
Journal Article, Case Reports, Research Support, N.I.H., Extramural