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Genetics of Dystonia

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Dystonia and Dystonic Syndromes

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Abstract

In recent years, the identification of several new dystonia genes has improved our understanding of the etiology of the rare monogenic forms and of dystonia in general, and has provided important insights into the nature of this clinically and genetically heterogeneous disorder. In the current dystonia genetics nomenclature, 23 different chromosomal regions are termed DYT (to denote their putative link to dystonia), and numbered in chronological order of their identification (DYT1-23; with DYT5a/DYT14; DYT9/DYT18 being identical, and DYT5b being a separate locus). The monogenic dystonia forms with a DYT designation are clinico-genetically grouped as i) ‘isolated dystonias’ (DYT1, DYT2, DYT4, DYT6, DYT7, DYT13, DYT17, DYT21, DYT23, DYT24, and DYT25), and ii) ‘combined dysonias’ that can have a persistent (DYT3, DYT5, DYT11, DYT12, DYT16, and DYT15) or paroxysmal (episodic) temporal pattern (DYT8-10 and DYT18-20). For 13 of these forms causative genes have been unequivocally identified, thereby providing insight into disease mechanisms. In addition to the causative gene mutations, genetic modifiers also seem to play an important role in the etiology of dystonia. In this chapter we will summarize the current knowledge and understanding of the genetics of dystonia and review proposed molecular mechanisms leading to the familial forms of the disease. In addition, we will explain current methods for the identification of dystonia genes, and consider implications for genetic testing.

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Authors and Affiliations

  1. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

    Ana Westenberger PhD & Christine Klein MD

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  1. Ana Westenberger PhD
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  2. Christine Klein MD
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Correspondence to Ana Westenberger PhD .

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Editors and Affiliations

  1. Department of Neurology, Palacky University Medical School University Hospital Olomouc, Olomouc, Czech Republic

    Petr Kanovsky

  2. Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, United Kingdom

    Kailash P. Bhatia

  3. Department of Neurology and Psychiatry, The Royal and Pontifical University of Santo Tomas, Manila, Philippines

    Raymond L. Rosales

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Westenberger, A., Klein, C. (2015). Genetics of Dystonia. In: Kanovsky, P., Bhatia, K., Rosales, R. (eds) Dystonia and Dystonic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1516-9_3

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  • DOI: https://doi.org/10.1007/978-3-7091-1516-9_3

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