Date: 18 Oct 2013

Genetics in Dystonia: An Update

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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.

This article is part of the Topical Collection on Movement Disorders