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The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia

✍ Scribed by Laurie J. Ozelius; Curtis E. Page; Christine Klein; Jeffrey W. Hewett; Mari Mineta; Joanne Leung; Christo Shalish; Susan B. Bressman; Deborah de Leon; Mitchell F. Brin; Stanley Fahn; David P. Corey; Xandra O. Breakefield


Book ID
115614961
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
84 KB
Volume
62
Category
Article
ISSN
0888-7543

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Expression of the early-onset torsion dy
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## Abstract Early‐onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locus on 9q34, is the most frequent genetic form of dystonia. Recent work has revealed that the causative mutation in most cases is deletion of a glutamate residue from the carboxy terminal of torsinA,

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Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni

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## Abstract To investigate the clinical features of early‐onset primary torsion dystonia (EO‐PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and di