Linked Life Data

14506940

Source:http://linkedlifedata.com/resource/pubmed/id/14506940

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-9-24
pubmed:abstractText
Mutations in both the spastin and paraplegin genes have been associated with upper motor neurone degeneration in hereditary spastic paraparesis. The aim of this study was to investigate if mutation in these genes is associated with upper motor neurone degeneration in primary lateral sclerosis (PLS) or selected motor neurone disease (MND) cases. DNA was extracted from whole blood and screened using single stranded conformation polymorphism and heteroduplex analysis. No mutation in the spastin or paraplegin genes was identified in the PLS or MND cases. Polymorphism was identified in the paraplegin gene but no association was shown with PLS or MND. We therefore conclude that mutation in spastin and paraplegin genes does not appear to cause PLS or MND.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1466-0822
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
96-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).
pubmed:affiliation
Academic Neurology Unit, University of Sheffield, E Floor, Medical School, Beech Hill Rd, Sheffield S10 2RX, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't