Linked Life Data

14615676

Source:http://linkedlifedata.com/resource/pubmed/id/14615676

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10 Pt 1
pubmed:dateCreated
2003-11-17
pubmed:abstractText
The DYT1 gene mutation is associated with early onset generalised dystonia. However, only 30-40 per cent of gene carriers develop symptoms. We have used electrophysiological tests to search for subclinical effects of the presence of the mutation in non-manifesting cases and compared these with those seen in clinically affected cases and healthy controls. Clinically affected patients had the same pattern of abnormalities in spinal and motor cortical circuits as described previously in non-genetically characterised patients. Non-manifesting cases had some but not all of these defects, suggesting that additional genetic or environmental factors may be needed to produce the full range of physiological deficiencies needed to give rise to clinical symptoms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0035-3787
pubmed:author
pubmed:issnType
Print
pubmed:volume
159
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
880-4
pubmed:dateRevised
2007-5-10
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Physiological studies in carriers of the DYT1 gene mutation.
pubmed:affiliation
Sobell Department, Institute of Neurology, London, UK.
pubmed:publicationType
Journal Article, Review