Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp.
Task-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.
Ritz
Katja
K
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Groen
Justus L
JL
Kruisdijk
Jose J M
JJ
Baas
Frank
F
Koelman
Johannes H T M
JH
Tijssen
Marina A J
MA
D000293:Adolescent; D000328:Adult; D000368:Aged; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D055815:Young Adult
D018832:Molecular Chaperones; C104647:PRKRA protein, human; D016601:RNA-Binding Proteins; C526572:SGCE protein, human; D049031:Sarcoglycans; C108175:TOR1A protein, human