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Late-onset axial jerky dystonia due to the DYT1 deletion

✍ 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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✦ Synopsis


Abstract

We describe a 71‐year‐old 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.


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A common 3-bp deletion in the DYT1 gene
✍ Petr A. Slominsky; Elena D. Markova; Marya I. Shadrina; Sergey N. Illarioshkin; πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 76 KB

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