title: Late-onset axial jerky dystonia due to the DYT1 deletion.
abstract: We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYT1 GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.
authors.affiliation: Department of Neurology, The University of Newcastle upon Tyne, United Kingdom. P.F.Chinnery@ncl.ac.uk
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Reading
authors.forename: Emma L
authors.initials: EL
authors.lastname: McCarthy
authors.forename: Ann
authors.initials: A
authors.lastname: Curtis
authors.forename: David J
authors.initials: DJ
authors.lastname: Burn
mesh_terms: D000367:Age Factors; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018832:Molecular Chaperones
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human