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Genetics of Dystonia

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Movement Disorder Genetics

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Abstract

Great advances have been made in the field of dystonia in the last decade. This includes the identification of several new genes, and it is likely the number of known genetic causes will continue to grow. Currently 25 DYT loci have been allocated, most of them referring to autosomal dominantly inherited conditions or pure or complex dystonia. In this chapter we discuss genetic causes of dystonia with focus on those variants which have been assigned a DYT locus. We summarize main clinical findings and genetic underpinnings and give a brief discussion of a clinical approach.

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Notes

  1. 1.

    Please note that there is some confusion in the literature with regard to the assignment of these two loci. Online Mendelian Inheritance in Man (OMIM) lists CIZ as DYT23 (OMIM entry 614860) and ANO3 as DYT24 (OMIM entry 615034). The HUGO Gene Nomenclature Committee lists ANO3 as DYT23 but has no entry for DYT24. The latter is in line with a paper entitled “The phenotypic spectrum of DYT24 due to ANO3 mutations” by Stamelou et al. [69].

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  1. Department of Neurology, University Hospital Kiel, Arnold-Heller- Str. 3, Kiel, 24105, Germany

    Susanne A. Schneider MD, PhD

  2. Sobell Department, University College London/Institute of Neurology, London, WC1N 3BG, UK

    Kailash P. Bhatia MD, DM, FRCP

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  1. Susanne A. Schneider MD, PhD
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  2. Kailash P. Bhatia MD, DM, FRCP
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Correspondence to Susanne A. Schneider MD, PhD .

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  1. Department of Neurology, University Hospital Kiel, Kiel, Germany

    Susanne A. Schneider

  2. Department of Molecular Neuroscience, University College London, Institute of Neurology, London, United Kingdom

    José M. Tomás Brás

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© 2015 Springer International Publishing Switzerland

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Schneider, S.A., Bhatia, K.P. (2015). Genetics of Dystonia. In: Schneider, S., Brás, J. (eds) Movement Disorder Genetics. Springer, Cham. https://doi.org/10.1007/978-3-319-17223-1_7

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  • DOI: https://doi.org/10.1007/978-3-319-17223-1_7

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17222-4

  • Online ISBN: 978-3-319-17223-1

  • eBook Packages: MedicineMedicine (R0)

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