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Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing

  • High Impact Review in Neuroscience, Neurology or Psychiatry - Review Article
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Abstract

The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary considerably among the different subtypes of dystonia. Several variables are thought to contribute to this variation including age of onset and duration of dystonia, specific characteristics of the dystonic movements, location of stimulation and stimulator settings, and others. The potential contributions of genetic factors have received little attention. In this review, we summarize evidence that some of the variation in DBS outcomes for dystonia is due to genetic factors. The evidence suggests that more methodical genetic testing may provide useful information in the assessment of potential surgical candidates, and in advancing our understanding of the biological mechanisms that influence DBS outcomes.

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Acknowledgements

This article was supported in part by Medtronic. HAJ also is supported by grants to the Dystonia Coalition from the National Center for Advancing Translational Studies (U54 TR001456) and the National Institute of Neurological Disorders and Stroke (U54 NS065701) at the NIH. CK is supported by DYSTRACT (BMBF) and is the recipient of a career development award from the Hermann and Lilly Schilling Foundation.

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Authors and Affiliations

  1. Departments of Neurology, Human Genetics and Pediatrics, Emory University, Suite 6300 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta, GA, 30322, USA

    H. A. Jinnah

  2. Division of Neurosurgery, Beth Israel Deaconess Medical Center, Boston, MA, USA

    Ron Alterman

  3. Department of Neurology and Institute of Neurogenetics, University of Lübeck, Lübeck, Germany

    Christine Klein

  4. Department of Neurosurgery, Medical School Hannover, MHH, Hannover, Germany

    Joachim K. Krauss

  5. Department of Psychiatry and Neurology, Centre Hospitalier Universitaire de Grenoble, Grenoble, France

    Elena Moro

  6. Département des Maladies du Système Nerveux, Hôpital de la Salpêtrière, Paris, France

    Marie Vidailhet

  7. Neuromodulation Global Research, Medtronic Inc., Fridley, MN, USA

    Robert Raike

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  1. H. A. Jinnah
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  2. Ron Alterman
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  3. Christine Klein
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  5. Elena Moro
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Correspondence to H. A. Jinnah.

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Conflict of interest

RR is a Medtronic employee. HAJ prepared this review under a consultancy agreement with Medtronic. Some other co-authors (RA, EM, MV and JK) also have served as paid consultants or received research grants from Medtronic, as well as other companies that make or develop devices for deep brain stimulation. However, neither Medtronic nor any of the authors have any financial conflicts of interest relating to genetic testing.

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Jinnah, H.A., Alterman, R., Klein, C. et al. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm 124, 417–430 (2017). https://doi.org/10.1007/s00702-016-1656-9

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  • DOI: https://doi.org/10.1007/s00702-016-1656-9

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