Source:http://linkedlifedata.com/resource/pubmed/id/10627938
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
2000-1-27
|
| pubmed:abstractText |
Early-onset, generalized primary torsion dystonia (PTD) is an autosomal dominantly inherited disorder, characterized by involuntary movements and abnormal postures. The majority of cases are caused by a 3-bp deletion in the DYT1 gene on chromosome 9q34 that allows for specific genetic testing. We developed a simple, reliable, and cost-effective, PCR-based screening method for this mutation. Testing results from a cohort of 550 cases, including patients with different forms of dystonia and unclassified movement disorders, revealed that 72.2% of the patients with typical early-onset generalized PTD carried the GAG deletion in the DYT1 gene. Among 300 cases with late-onset focal/segmental dystonia, only 3 patients tested positive for the GAG deletion whereas 12.8% of the patients with an unclassified movement disorder were GAG positive. Our results confirm a genotype/phenotype correlation in early-onset PTD and show that application of strict clinical criteria leads to accurate prediction of carrier status in more than two-thirds of patients with this type of dystonia. Currently, we suggest that testing be recommended in individuals with age of onset of dystonia below 30 years and/or a positive family history of early-onset PTD. Testing is not recommended in patients with onset of symptoms after 30 years or in asymptomatic individuals under the age of 18.
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| pubmed:grant | |
| pubmed:keyword | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
E
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1090-6576
|
| pubmed:author |
pubmed-author:BreakefieldX OXO,
pubmed-author:BressmanSS,
pubmed-author:BrinM FMF,
pubmed-author:De LeonDD,
pubmed-author:FleetCC,
pubmed-author:FriedmanJJ,
pubmed-author:HagenahJJ,
pubmed-author:KielyRR,
pubmed-author:KleinCC,
pubmed-author:OzeliusL JLJ,
pubmed-author:PramstallerP PPP,
pubmed-author:SiebererMM,
pubmed-author:SimsK BKB,
pubmed-author:ViereggePP,
pubmed-author:XiaZZ
|
| pubmed:issnType |
Print
|
| pubmed:volume |
3
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
323-8
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:10627938-Adult,
pubmed-meshheading:10627938-Age of Onset,
pubmed-meshheading:10627938-Aged,
pubmed-meshheading:10627938-Carrier Proteins,
pubmed-meshheading:10627938-Child,
pubmed-meshheading:10627938-Child, Preschool,
pubmed-meshheading:10627938-Dystonia,
pubmed-meshheading:10627938-Ethics, Medical,
pubmed-meshheading:10627938-Female,
pubmed-meshheading:10627938-Genetic Testing,
pubmed-meshheading:10627938-Heterozygote,
pubmed-meshheading:10627938-Humans,
pubmed-meshheading:10627938-Infant,
pubmed-meshheading:10627938-Jews,
pubmed-meshheading:10627938-Male,
pubmed-meshheading:10627938-Molecular Chaperones,
pubmed-meshheading:10627938-Pedigree,
pubmed-meshheading:10627938-Polymerase Chain Reaction,
pubmed-meshheading:10627938-Prenatal Diagnosis,
pubmed-meshheading:10627938-Sequence Deletion,
pubmed-meshheading:10627938-Trinucleotide Repeats
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
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| pubmed:affiliation |
Neurology Department, Massachusetts General Hospital, Boston, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|