Recent Advances in the Genetics of Dystonia

  • Jianfeng Xiao
  • Satya R. Vemula
  • Mark S. LeDoux
Genetics (V Bonifati, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Genetics


Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.” Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several “novel” genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype–phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia.


Dystonia PRRT2 CIZ1 GNAL ANO3 TUBB4A Whole-exome sequencing 



Our dystonia research has been supported by grants from the National Institutes of Health (K08NS001593, R01EY012232, R01NS048458, R01NS050185, R01NS069936, and U54NS065701), the Dystonia Medical Research Foundation, the Bachmann-Strauss Dystonia & Parkinson Foundation, Tyler’s Hope for a Dystonia Cure, and the University of Tennessee Health Science Center Neuroscience Institute.

Compliance with Ethics Guidelines

Conflict of Interest

Jianfeng Xiao and Satya R. Vemula declare that they have no conflict of interest.

Mark S. LeDoux has received consultancy fees from Teva and Lundbeck. He has also received grants from the National Institutes of Health, the Cure Huntington Disease Initiative, and Prana. He has also received honorarium payments from Teva, Lundbeck, and UCB Pharma, as well as royalty payments from Elsevier.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Jianfeng Xiao
    • 1
    • 2
  • Satya R. Vemula
    • 1
    • 2
  • Mark S. LeDoux
    • 1
    • 2
  1. 1.Department of NeurologyUniversity of Tennessee Health Science CenterMemphisUSA
  2. 2.Department of Anatomy and NeurobiologyUniversity of Tennessee Health Science CenterMemphisUSA

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