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Screening for dystonia genes DYT1 , 11 and 16 in patients with writer's cramp
Author(s) -
Ritz Katja,
Groen Justus L.,
Kruisdijk Jose J.M.,
Baas Frank,
Koelman Johannes H.T.M.,
Tijssen Marina A.J.
Publication year - 2009
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22632
Subject(s) - dystonia , mutation , phenotype , neurological disorder , gene , medicine , focal dystonia , movement disorders , cohort , genetics , physical medicine and rehabilitation , pediatrics , biology , central nervous system disease , psychiatry , disease
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