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

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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2010-05-01
Series:Neurobiology of Disease
Subjects:
DYT1 dystonia
Gene expression profiling
TorsinA
Penetrance
Online Access:http://www.sciencedirect.com/science/article/pii/S096999610900374X

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