Linked Life Data

12442699

Source:http://linkedlifedata.com/resource/pubmed/id/12442699

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2002-11-21
pubmed:abstractText
Notwithstanding the discovery of GCH1 and TH mutations in autosomal-dominant and autosomal-recessive DRD, respectively, a therapeutic trial with levodopa is still the most practical approach to the diagnosis of DRD. The trial needs to be considered in all children with dystonic and/or parkinsonian symptoms or with unexplained gait disorders. Further accumulation of patients with TH-deficient DRD (the mild form of TH deficiency) is necessary to establish the clinical characteristics of this disorder. Regarding GTPCH-deficient DRD, there remain important unresolved issues, including questions of incomplete penetrance of GCH1 mutations, female predominance of affected subjects, and intrafamilial phenotypic variation. A clarification of the mechanism of striatal TH protein loss in GTPCH-deficient DRD may provide a new clue to the pathogenesis of this major form of DRD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0091-3952
pubmed:author
pubmed:issnType
Print
pubmed:volume
91
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
401-10
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.
pubmed:affiliation
Movement Disorders Research Laboratory, Centre for Addiction and Mental Health-Clarke Division, Toronto, Ontario, Canada.
pubmed:publicationType
Journal Article