## 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,
Novel mutation in theTOR1A(DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
β Scribed by Joanne Leung; Christine Klein; Jennifer Friedman; Peter Vieregge; Helfried Jacobs; Dana Doheny; Christoph Kamm; Deborah DeLeon; Peter P. Pramstaller; John B. Penney; Marvin Eisengart; Joseph Jankovic; Thomas Gasser; Susan B. Bressman; David P. Corey; Patricia Kramer; Mitchell F. Brin; Laurie J. Ozelius; Xandra O. Breakefield
- Book ID
- 106257474
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 210 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1364-6745
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π SIMILAR VOLUMES
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 The DYT1 gene on chromosome 9q34 underlies idiopathic torsion dystonia (ITD) in Jewish and nonβJewish families with childhood and adolescentβonset dystonia that usually starts in a limb, spreads to other limbs, and uncommonly involves cranial muscles. We examined 39 members of a Mennoni