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

T. Gasser, K. Windgassen, B. Bereznai, C. Kabus, A. C. Ludolph

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)126-128
Number of pages3
JournalAnnals of Neurology
Volume44
Issue number1
DOIs
Publication statusPublished - Jul 1998

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Dystonic Disorders
Mutation
Dystonia
Gene Deletion
Carrier Proteins
Adenosine Triphosphate

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Phenotypic expression of the DYT1 mutation : A family with writer's cramp of juvenile onset. / Gasser, T.; Windgassen, K.; Bereznai, B.; Kabus, C.; Ludolph, A. C.

In: Annals of Neurology, Vol. 44, No. 1, 07.1998, p. 126-128.

Research output: Contribution to journalArticle

Gasser, T. ; Windgassen, K. ; Bereznai, B. ; Kabus, C. ; Ludolph, A. C. / Phenotypic expression of the DYT1 mutation : A family with writer's cramp of juvenile onset. In: Annals of Neurology. 1998 ; Vol. 44, No. 1. pp. 126-128.
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