Blood expression profiles define penetrance in DYT1 dystonia patients

ABSTRACT: DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. Due to the reduced penetrance of ~30-40%, the determination of the mutation in a subject is of limited use with regard to actual manifestation of symptoms. In the present study, we used Affymetrix oligonucleotide microarrays to analyze global gene expression in blood samples of 15 manifesting and 15 non-manifesting mutation carriers in order to identify a susceptibility profile beyond the GAG deletion which is associated with the manifestation of symptoms in DYT1 dystonia.We identified a genetic signature which distinguished between asymptomatic mutation carriers and symptomatic DYT1 patients with 86.7% sensitivity and 100% specificity. This genetic signature c

ORGANISM(S): Homo sapiens

SUBMITTER: Michael Walter 

PROVIDER: E-GEOD-19419 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress