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

• Type of Material: Article
• Authors: Hyder A Jinnah, Emory University; Ron Alterman, Beth Israel Deaconess Medical Center; Christine Klein, University of Lubeck; Joachim K. Krauss, Hannover Medical School; Elena Moro, Centre Hospitalier Universitaire de Grenoble; Marie Vidailhet, Hôpital de la Salpêtrière; Robert Raike, Medtronic Inc.
• Language: English
• Date: 2017-04-01
• Publisher: Springer Verlag (Germany)
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © Springer-Verlag Wien 2017
• Final Published Version (URL): http://dx.doi.org/10.1007/s00702-016-1656-9
• Title of Journal or Parent Work: Journal of Neural Transmission
• ISSN: 0300-9564
• Volume: 124
• Issue: 4
• Start Page: 417
• End Page: 430
• Grant/Funding Information: This article was supported in part by Medtronic.; CK is supported by DYSTRACT (BMBF) and is the recipient of a career development award from the Hermann and Lilly Schilling Foundation.; 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.
• Keywords: VARIANT CLASSIFICATION; WILSONS-DISEASE; Clinical Neurology; INCIDENTAL FINDINGS; Dystonia; GLOBUS-PALLIDUS INTERNUS; PRIMARY GENERALIZED DYSTONIA; MOVEMENT-DISORDERS; ATAXIA-TELANGIECTASIA; Genetics; Neurosciences; Science & Technology; Neurosciences & Neurology; CERVICAL DYSTONIA; Life Sciences & Biomedicine; Neuromodulation; Deep brain stimulation; DYT6 DYSTONIA; CEREBRAL-PALSY
• Research Categories: Biology, Genetics; Biology, Neuroscience

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.