Late-onset axial jerky dystonia due to the DYT1 deletion.
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.
Chinnery
Patrick F
PF
Department of Neurology, The University of Newcastle upon Tyne, United Kingdom. P.F.Chinnery@ncl.ac.uk
Reading
Paul J
PJ
McCarthy
Emma L
EL
Curtis
Ann
A
Burn
David J
DJ
D000367:Age Factors; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018832:Molecular Chaperones
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human