title: The DYT1 GAG deletion is infrequent in sporadic and familial writer' s cramp.
abstract: 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 determine the frequency of this mutation in a larger series of patients, we examined 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 mutation 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.
authors: Neurologische Kliniken, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
authors: C
authors: C
authors: Kamm
authors: M
authors: M
authors: Naumann
authors: J
authors: J
authors: Mueller
authors: N
authors: N
authors: Mai
authors: L
authors: L
authors: Riedel
authors: J
authors: J
authors: Wissel
authors: T
authors: T
authors: Gasser
mesh_terms: D000328:Adult; D020029:Base Pairing; D002352:Carrier Proteins / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human