DYT1Torsion Dystonia 1, Autosomal Dominant
References in periodicals archive ?
The DYT1, phenotypeand guidelines for diagnostic testing, Neurology.
Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
Clinical Features, DYT1 Mutation Screening and Genotype-PhenotypeCorrelation in Patients with Dystonia, Iran.
Ozelius L-Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
A Direct Interaction between Causative Genes of DYT1 and DYT6 Primary Dystonia, Ann Neurol: 68(4): 549-553.
The DYT1 mutation is rare, occurring in no more than I in 5,000 people in the United States.
Future research will involve rodents with and without mutated DYT1, Ozelius says.
When mutant torsinA, which causes DYT1 dystonia, is present, it interferes with this process, making cells unusually vulnerable to cellular stress that may compromise neuronal function.
Understanding how this works in DYT1 dystonia may suddenly open up new possibilities for designing dystonia-specific treatments.
The Bachmann-Strauss Dystonia & Parkinson Foundation provided funding in part for this study and for the earlier discovery of the DYT1 gene.