Late-onset axial jerky dystonia due to the DYT1 deletion
β Scribed by Patrick F. Chinnery; Paul J. Reading; Emma L. McCarthy; Ann Curtis; David J. Burn
- Book ID
- 102944247
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 511 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Abstract
We describe a 71βyearβold woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYT1 GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia. Β© 2001 Movement Disorder Society.
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