## Abstract Earlyβonset 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,
The TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia
β 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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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
## Abstract To investigate the clinical features of earlyβonset primary torsion dystonia (EOβPTD), 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