title: Writer's cramp in an Australian pedigree with DYT1 dystonia.
abstract: Oppenheim's or DYT1 dystonia is a primary dystonia typically presenting in a limb at an early age and usually becoming generalised within 5 years. Over the last decade research into this debilitating disorder has progressed considerably, enabling the identification of a genetic lesion (a 3bp deletion in the DYT1 gene) now widely accepted as the cause of a majority of cases. This case report presents the first molecularly diagnosed pedigree of an Australian family with DYT1 dystonia, which presented as writer's cramp in the 15-year-old proband and two of his cousins.
authors.affiliation: Department of Neurology, Flinders Medical Center, South Australia, Australia.
authors.forename: Mehdi
authors.initials: M
authors.lastname: van den Bos
authors.forename: Rosetta
authors.initials: R
authors.lastname: Marotta
authors.forename: Sandra
authors.initials: S
authors.lastname: Goldup
authors.forename: Tim
authors.initials: T
authors.lastname: Chataway
authors.forename: Frank
authors.initials: F
authors.lastname: Firgaira
authors.forename: Dominic
authors.initials: D
authors.lastname: Thyagarajan
mesh_terms: D000293:Adolescent; D001315:Australia / Q000208:ethnology; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D020821:Dystonic Disorders / Q000150:complications*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D010375:Pedigree
chemical_list: D018832:Molecular Chaperones; C108175:TOR1A protein, human