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• W2040998974 abstract "<b><i>Background:</i></b> Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three–base pair (bp) (GAG) deletion in the <i>DYT1</i> gene. Exon rearrangements are a common mutation type in other genes and have not yet been tested for in <i>DYT1</i>. Several lines of evidence suggest a relationship of the <i>DYT1</i> gene with Parkinson disease (PD). <b><i>Objective:</i></b> To investigate the frequency and type of <i>DYT1</i> mutations and explore the associated phenotypes in a mixed movement disorders patient cohort and in controls. <b><i>Methods:</i></b> The authors screened 197 patients with dystonia (generalized: n = 5; focal/segmental: n = 126; myoclonus-dystonia: n = 34; neuroleptic-induced: n = 32), 435 with PD, and 42 with various other movement disorders, along with 812 healthy controls, for small deletions in exon 5 of <i>DYT1</i> and tested for exon rearrangements by quantitative, duplex PCR in 51 GAG deletion-negative dystonia cases. <b><i>Results:</i></b> The GAG deletion was detected in five patients: three with early-onset PTD, one with generalized jerky or clonic dystonia, and one with generalized dystonia and additional features (developmental delay, pyramidal syndrome). A novel out-of-frame four-bp deletion (934_937delAGAG) in exon 5 of the <i>DYT1</i> gene was found in a putatively healthy blood donor. No exon rearrangements were identified in <i>DYT1</i>. <b><i>Conclusions:</i></b> In this mixed patient sample, the GAG deletion was rare and in two out of five cases associated with an unusual phenotype. In addition, a novel <i>DYT1</i> truncating mutation of unknown clinical relevance was found in a putatively unaffected individual. <i>DYT1</i> exon rearrangements, however, do not seem to be associated with PTD." @default.
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• W2040998974 date "2004-02-09" @default.
• W2040998974 modified "2023-10-06" @default.
• W2040998974 title "Mutations in DYT1: Extension of the phenotypic and mutational spectrum" @default.
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• W2040998974 doi "https://doi.org/10.1212/01.wnl.0000113024.84178.f7" @default.
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