DYT1Torsion Dystonia 1, Autosomal Dominant
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Using a technology called pre-implantation genetic testing, they could pick the embryos that had not inherited the DYT1 mutation.
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Es heterogenea en su etiologia por lo que se han identificado varios locus con genes responsables de distonia generalizada de inicio temprano llamados DYT (Distonia de torsion) y el mas frecuente es el gen DYT1, ubicado en el cromosoma 9q34.21.
Los pacientes positivos para DYT1 mostraron una mejoria mayor.
Patients carrying GAG deletion mutation of the DYT1 gene and having a known causes, including traumatic or structural brain lesions, or treatment with neuroleptic drugs or patients diagnosed with another syndrome with dystonia, such as Parkinson's disease or dystonia plus syndrome, were excluded from the study.
This prospective study is the first to report on more than 3 years of follow-up of deep brain stimulation (DBS) in DYT1 dystonia--a form of primary dystonia that typically presents in early childhood and is caused by a mutation in the DYT1 gene.
Indeed, recent work reveals that only 30 to 40 percent of people with a mutated DYT1 ever show its effects.
Tassone et al., "Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum," eLife, vol.
The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp.
Eidelberg, "Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study," Brain, vol.