Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
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.
Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany.
T
T
Gasser
K
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Windgassen
B
B
Bereznai
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C
Kabus
A C
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Ludolph
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006236:Handwriting; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017384:Sequence Deletion
D005819:Genetic Markers