Source:http://linkedlifedata.com/resource/pubmed/id/17898029
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
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| pubmed:dateCreated |
2008-1-18
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| pubmed:abstractText |
We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia patients were studied. Fifty of these had a sustained response to oral L-Dopa therapy (group 1: definite diagnosis of DRD), whereas the response to L-Dopa was incomplete or not tested in 86 patients (group 2: possible diagnosis of DRD). We found a GCH1 point mutation in 27 patients of group 1 (54%) and in four patients of group 2 (5%). Of these, nine single and one double mutation have not been described before. GCH1 deletions were detected in four patients of group 1 (8%) and in one patient of group 2 (1%). Among GCH1 point-mutation-negative patients with a definite diagnosis of DRD (group 1), the frequency of GCH1 deletions was 17% (4/23). We conclude that GCH1 deletion analysis should be incorporated into the routine molecular diagnosis of all patients with DRD with a sustained response to L-Dopa.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Feb
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| pubmed:issn |
1468-330X
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
79
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
183-6
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| pubmed:meshHeading |
pubmed-meshheading:17898029-Adolescent,
pubmed-meshheading:17898029-Adult,
pubmed-meshheading:17898029-Antiparkinson Agents,
pubmed-meshheading:17898029-Child,
pubmed-meshheading:17898029-Child, Preschool,
pubmed-meshheading:17898029-Chromosome Aberrations,
pubmed-meshheading:17898029-Chromosome Deletion,
pubmed-meshheading:17898029-Cohort Studies,
pubmed-meshheading:17898029-DNA Mutational Analysis,
pubmed-meshheading:17898029-Dystonic Disorders,
pubmed-meshheading:17898029-Female,
pubmed-meshheading:17898029-GTP Cyclohydrolase,
pubmed-meshheading:17898029-Gene Frequency,
pubmed-meshheading:17898029-Genes, Dominant,
pubmed-meshheading:17898029-Humans,
pubmed-meshheading:17898029-Infant,
pubmed-meshheading:17898029-Levodopa,
pubmed-meshheading:17898029-Male,
pubmed-meshheading:17898029-Microsatellite Repeats,
pubmed-meshheading:17898029-Penetrance,
pubmed-meshheading:17898029-Point Mutation,
pubmed-meshheading:17898029-Sequence Analysis, Protein
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| pubmed:year |
2008
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| pubmed:articleTitle |
Frequency of GCH1 deletions in Dopa-responsive dystonia.
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| pubmed:affiliation |
Institut für Humangenetik, University of Giessen, Schlangenzahl 14, D-35392 Giessen, Germany.
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| pubmed:publicationType |
Journal Article
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