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Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset

✍ Scribed by Dr. T. Gasser; K. Windgassen; B. Bereznai; C. Kabus; A. C. Ludolph

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 326 KB
Volume: 44
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410440119

No coin nor oath required. For personal study only.

✦ Synopsis

Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease presented as a dystonic writer's cramp during late childhood or adolescence, which affected sequentially both sides but did not progress to a generalized form of dystonia. We conclude that familial writer's cramp may be a manifestation of the DYT1 mutation.

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