Recent Advances in the Genetics of Dystonia

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 

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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