Update on the Genetics of Dystonia

  • Katja Lohmann
  • Christine KleinEmail author
Genetics (V Bonifati, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Genetics


Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE. We present confirmatory evidence for a role of dystonia genes that had not yet been unequivocally established including PRKRA, TUBB4A, ANO3, and TAF1. We finally discuss selected novel genes for dystonia such as KMT2B and VAC14 along with the challenges for gene identification in the NGS era and the translational importance of dystonia genetics in clinical practice.


Dystonia Classification Nomenclature Novel genes Next-generation sequencing Mutation 



Katja Lohmann is supported by the DFG (LO 1555/4-1 and LO 1555/3-2). Christine Klein is a recipient of a career development award from the Hermann and Lilly Schilling Foundation. Further, Katja Lohmann and Christine Klein are supported by the German Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B) and a Research Unit of the DFG (FOR2488).

Compliance with Ethical Standards

Conflict of Interest

Katja Lohmann declares no conflict of interest.

Christine Klein has received personal fees from Centogene and from the Else Kroener Fresenius Foundation.

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 2017

Authors and Affiliations

  1. 1.Institute of NeurogeneticsUniversity of LuebeckLuebeckGermany

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