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 pat
Three brothers with a very-late-onset writer's cramp
✍ Scribed by Roongroj Bhidayasiri; Joanna C. Jen; Robert W. Baloh
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 147 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
Writer's cramp (WC) is a form of focal task‐specific dystonia, which is brought on by writing. Although most cases are sporadic, a positive family history is present in 5% to 20% of cases. To date, WC has been reported in several families with primary torsion dystonia, including DYT7, a pure focal dystonia, and in the mixed dystonias, DYT1, DYT6, and DYT13. We describe a family of Bulgarian descent with three brothers presenting with a very‐late‐onset dystonic WC, compatible with linkage to chromosome 18p. © 2005 Movement Disorder Society
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## Abstract Two young adult brothers presented with a 5‐ to 6‐Hz resting tremor of the upper limbs. Although ataxia was not unequivocally present and ocular telangiectasia was minimal, typical rearrangements of chromosomes 7 and 14, and increased α‐fetoprotein levels indicated the presence of ataxi