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Neurobiol Dis. 2011 May;42(2):127-35. doi: 10.1016/j.nbd.2010.12.012. Epub 2010 Dec 17.

Genetic and clinical features of primary torsion dystonia.

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  • 1Departments of Genetics and Genomic Sciences and Neurology, Mount Sinai School of Medicine, One Gustave L Levy Pl, Box 1498 New York, NY 10029, USA. laurie.ozelius@mssm.edu


Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and discuss the responsible gene. This article is part of a Special Issue entitled "Advances in dystonia".

Copyright © 2010 Elsevier Inc. All rights reserved.

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