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: Article

84 Citations (Scopus)

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 - júl. 1 1998

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ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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