Linked Life Data

16409550

Source:http://linkedlifedata.com/resource/pubmed/id/16409550

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2006-1-13
pubmed:abstractText
Mutation of the LRRK2 gene has been associated with autosomal dominant parkinsonism. An R1441C pathogenic substitution was identified in Family D, a large Western Nebraskan kindred, with four members demonstrating pleomorphic pathology at autopsy. One member of this family displayed tau pathology suggestive of progressive supranuclear palsy (PSP). To evaluate the influence of mutation at the R1441 residue in this disorder we screened a series of 242 pathologically confirmed PSP cases. No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0305-1846
pubmed:author
pubmed:issnType
Print
pubmed:volume
32
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
23-5
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Lrrk2 R1441 substitution and progressive supranuclear palsy.
pubmed:affiliation
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural