Genetics in Dystonia: An Update

Movement Disorders (SA Factor, Section Editor)

DOI: 10.1007/s11910-013-0410-z

Cite this article as:
Fuchs, T. & Ozelius, L.J. Curr Neurol Neurosci Rep (2013) 13: 410. doi:10.1007/s11910-013-0410-z
Part of the following topical collections:
  1. Topical Collection on Movement Disorders


The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes (CIZ1, ANO3, GNAL, and TUBB4A). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, which allows rapid and comprehensive assessment of a patient’s genome. In addition, a combination of next-generation and traditional Sanger sequencing has expanded the phenotypic spectrum associated with some of the dystonia plus (ATP1A3) and paroxysmal (PRRT2) loci. This article reviews the newly identified genes and phenotypes and discusses the future applications of next-generation sequencing to dystonia research.


Dystonia Genetics Next-generation sequencing Exome CIZ1 ANO3 GNAL TUBB4A Phenotypic spectrum 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Genetics and Genomic SciencesIchan School of Medicine at Mount SinaiNew YorkUSA
  2. 2.Department of NeurologyIchan School of Medicine at Mount SinaiNew YorkUSA

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