Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

M. Walter, M. Bonin, R. Saunders Pullman, E. M. Valente, M. Loi, M. Gambarin, D. Raymond, M. Tinazzi, C. Kamm, N. Glöckle, S. Poths, T. Gasser, S. B. Bressman, C. Klein, L. J. Ozelius, O. Riess, K. Grundmann*

*Corresponding author for this work
10 Citations (Scopus)


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 could correctly predict the disease state in an independent test set with a sensitivity of 87.5% and a specificity of 85.7%.Conclusively, this genetic signature might provide a possibility to distinguish DYT1 patients from asymptomatic mutation carriers.

Original languageEnglish
JournalNeurobiology of Disease
Issue number2
Pages (from-to)192-200
Number of pages9
Publication statusPublished - 01.05.2010


Dive into the research topics of 'Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia'. Together they form a unique fingerprint.

Cite this