Linked Life Data

12781599

Source:http://linkedlifedata.com/resource/pubmed/id/12781599

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-6-3
pubmed:abstractText
Parkin mutations have been associated with an autosomal recessive-juvenile parkinsonism, but it is unclear how common such patients are in a US based clinic population. In this study, we screened for parkin gene mutations in a clinic-based series of 27 consecutive patients in the US with typical parkinsonism beginning before the age of 50 years. Two patients began the disease before the age of 30 years. Among the 27 patients screened, only one patient, whose disease began at the age of 24 years, was found to harbor a parkin mutation (a 40 bp deletion in exon 3). In addition, we also identified four new polymorphisms in the open reading frames of the parkin gene in this population. Our results suggest parkinsonism due to mutations in the parkin gene is extremely rare in the US population when the disease begins over the age of 30.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1353-8020
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
309-12
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Parkin mutations are rare in patients with young-onset parkinsonism in a US population.
pubmed:affiliation
Parkinson's Institute, 1170 Morse Avenue, Sunnyvale, CA 94089, USA.
pubmed:publicationType
Journal Article