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Author Notes:

H. A. Jinnah, M.D., Ph.D., Professor, Departments of Neurology, Human Genetics & Pediatrics, Emory University, Suite 6300 Woodruff Memorial Building, 101 Woodruff Circle, Atlanta GA, 30322, Phone: 404-727-9107, Fax: 404-712-8576, hjinnah@emory.edu

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.

Subjects:

Research Funding:

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.

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Clinical Neurology
  • Neurosciences
  • Neurosciences & Neurology
  • Deep brain stimulation
  • Neuromodulation
  • Dystonia
  • Genetics
  • PRIMARY GENERALIZED DYSTONIA
  • GLOBUS-PALLIDUS INTERNUS
  • DYT6 DYSTONIA
  • ATAXIA-TELANGIECTASIA
  • INCIDENTAL FINDINGS
  • MOVEMENT-DISORDERS
  • CERVICAL DYSTONIA
  • WILSONS-DISEASE
  • CEREBRAL-PALSY
  • VARIANT CLASSIFICATION

Deep Brain Stimulation for Dystonia: A Novel Perspective on the Value of Genetic Testing

Tools:

Journal Title:

Journal of Neural Transmission

Volume:

Volume 124, Number 4

Publisher:

, Pages 417-430

Type of Work:

Article | Post-print: After Peer Review

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.

Copyright information:

© Springer-Verlag Wien 2017

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