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Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

✍ Scribed by Katja Ritz; Justus L. Groen; Jose J.M. Kruisdijk; Frank Baas; Johannes H.T.M. Koelman; Marina A.J. Tijssen

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 289 KB
Volume: 24
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.22632

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✦ Synopsis

Abstract

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. © 2009 Movement Disorder Society

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