Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Copyright policy )Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
AbstractTask‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society
- Amsterdam University Medical Centers Netherlands
- University of Amsterdam Netherlands
- University of Groningen Netherlands
- Amsterdam UMC Netherlands
DYT11, Adult, Male, Adolescent, Genotype, DYT1, DYT16, FAMILY-HISTORY, writer's cramp, Young Adult, Sarcoglycans, Humans, Genetic Predisposition to Disease, Genetic Testing, MUTATION, Aged, ONSET DYSTONIA, RNA-Binding Proteins, Middle Aged, MYOCLONUS-DYSTONIA, PRKRA, Dystonic Disorders, Mutation, Female, Trinucleotide Repeat Expansion, Molecular Chaperones
DYT11, Adult, Male, Adolescent, Genotype, DYT1, DYT16, FAMILY-HISTORY, writer's cramp, Young Adult, Sarcoglycans, Humans, Genetic Predisposition to Disease, Genetic Testing, MUTATION, Aged, ONSET DYSTONIA, RNA-Binding Proteins, Middle Aged, MYOCLONUS-DYSTONIA, PRKRA, Dystonic Disorders, Mutation, Female, Trinucleotide Repeat Expansion, Molecular Chaperones
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