The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp

A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia. In some cases, this mutation has been associated with writer's cramp. To dete rmine the frequency of this mutation in a larger series of patients, we exa mined 44 index patients with sporadic or familial (seven patients) writer's cramp for the presence of the DYT1 GAG deletion, including eight patients with segmental dystonia involving at least one upper limb. We found the mut ation in none of these index patients, which confirms that isolated writer' s cramp is only in rare cases a phenotypic manifestation of this mutation, even if a positive family history of writer's cramp is present.