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Recent Advances in the Genetics of Dystonia

  • Genetics (V Bonifati, Section Editor)
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Abstract

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.

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Acknowledgements

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.

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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.

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Authors and Affiliations

  1. Department of Neurology, University of Tennessee Health Science Center, 855 Monroe Avenue, Link Building Suite 415, Memphis, TN, 38163, USA

    Jianfeng Xiao, Satya R. Vemula & Mark S. LeDoux

  2. Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN, 38163, USA

    Jianfeng Xiao, Satya R. Vemula & Mark S. LeDoux

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  1. Jianfeng Xiao
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  2. Satya R. Vemula
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  3. Mark S. LeDoux
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Correspondence to Mark S. LeDoux.

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Xiao, J., Vemula, S.R. & LeDoux, M.S. Recent Advances in the Genetics of Dystonia. Curr Neurol Neurosci Rep 14, 462 (2014). https://doi.org/10.1007/s11910-014-0462-8

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