Norbert Brüggemann1, Andrea Kühn2, Susanne A Schneider2, Christoph Kamm2, Alexander Wolters2, Patricia Krause2, Elena Moro2, Frank Steigerwald2, Matthias Wittstock2, Volker Tronnier2, Andres M Lozano2, Clement Hamani2, Yu-Yan Poon2, Simone Zittel2, Tobias Wächter2, Günther Deuschl2, Rejko Krüger2, Andreas Kupsch2, Alexander Münchau2, Katja Lohmann2, Jens Volkmann2, Christine Klein2. 1. From the Institute of Neurogenetics (N.B., S.A.S., S.Z., A.M., K.L., C. Klein), University of Lübeck; Department of Neurology (N.B.), University Hospital Schleswig-Holstein, Campus Lübeck; Department of Neurology (A. Kühn, P.K.), Virchow Clinics, University Berlin Charité; Department of Neurology (S.A.S., G.D.), University Hospital Schleswig-Holstein, Campus Kiel; Department of Neurology (C. Kamm, A.W., M.W.), University Hospital Rostock, Germany; Movement Disorders Center (E.M., Y.-Y.P.), Toronto Western Hospital, University of Toronto, UHN, Canada; Movement Disorders Unit (E.M.), Division of Psychiatry and Neurology, CHU Grenoble, Joseph Fourier University, Grenoble, France; Department of Neurology (F.S., J.V.), University Hospital Würzburg; Department of Neurosurgery (V.T.), University Hospital Lübeck, Germany; Division of Neurosurgery (A.M.L., C.H.), Department of Surgery, University of Toronto, Canada; Center for Neurology and Hertie-Institute for Clinical Brain Research (T.W., R.K.), University Hospital Tübingen, Center for Integrative Neurosciences, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen; Clinical and Experimental Neuroscience (R.K.), Luxembourg Centre for Systems Biomedicine, University of Luxembourg; and Department of Neurology and Stereotactic Neurosurgery (A. Kupsch), Basal Ganglia Research Group, Otto von Guericke University Magdeburg, Germany. norbert.brueggemann@neuro.uni-luebeck.de. 2. From the Institute of Neurogenetics (N.B., S.A.S., S.Z., A.M., K.L., C. Klein), University of Lübeck; Department of Neurology (N.B.), University Hospital Schleswig-Holstein, Campus Lübeck; Department of Neurology (A. Kühn, P.K.), Virchow Clinics, University Berlin Charité; Department of Neurology (S.A.S., G.D.), University Hospital Schleswig-Holstein, Campus Kiel; Department of Neurology (C. Kamm, A.W., M.W.), University Hospital Rostock, Germany; Movement Disorders Center (E.M., Y.-Y.P.), Toronto Western Hospital, University of Toronto, UHN, Canada; Movement Disorders Unit (E.M.), Division of Psychiatry and Neurology, CHU Grenoble, Joseph Fourier University, Grenoble, France; Department of Neurology (F.S., J.V.), University Hospital Würzburg; Department of Neurosurgery (V.T.), University Hospital Lübeck, Germany; Division of Neurosurgery (A.M.L., C.H.), Department of Surgery, University of Toronto, Canada; Center for Neurology and Hertie-Institute for Clinical Brain Research (T.W., R.K.), University Hospital Tübingen, Center for Integrative Neurosciences, University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), Tübingen; Clinical and Experimental Neuroscience (R.K.), Luxembourg Centre for Systems Biomedicine, University of Luxembourg; and Department of Neurology and Stereotactic Neurosurgery (A. Kupsch), Basal Ganglia Research Group, Otto von Guericke University Magdeburg, Germany.
Abstract
OBJECTIVES: Deep brain stimulation of the internal pallidum (GPi-DBS) is an established therapeutic option in treatment-refractory dystonia, and the identification of factors predicting surgical outcome is needed to optimize patient selection. METHODS: In this retrospective multicenter study, GPi-DBS outcome of 8 patients with DYT6, 9 with DYT1, and 38 with isolated dystonia without known monogenic cause (non-DYT) was assessed at early (1-16 months) and late (22-92 months) follow-up using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores. RESULTS: At early follow-up, mean reduction of dystonia severity was greater in patients with DYT1 (BFMDRS score: -60%) and non-DYT dystonia (-52%) than in patients with DYT6 dystonia (-32%; p = 0.046). Accordingly, the rate of responders was considerably lower in the latter group (57% vs >90%; p = 0.017). At late follow-up, however, GPi-DBS resulted in comparable improvement in all 3 groups (DYT6, -42%; DYT1, -44; non-DYT, -61%). Additional DBS of the same or another brain target was performed in 3 of 8 patients with DYT6 dystonia with varying results. Regardless of the genotype, patients with a shorter duration from onset of dystonia to surgery had better control of dystonia postoperatively. CONCLUSIONS: Long-term GPi-DBS is effective in patients with DYT6, DYT1, and non-DYT dystonia. However, the effect of DBS appears to be less predictable in patients with DYT6, suggesting that pre-DBS genetic testing and counseling for known dystonia gene mutations may be indicated. GPi-DBS should probably be considered earlier in the disease course. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that long-term GPi-DBS improves dystonia in patients with DYT1, DYT6, and non-DYT dystonia.
OBJECTIVES: Deep brain stimulation of the internal pallidum (GPi-DBS) is an established therapeutic option in treatment-refractory dystonia, and the identification of factors predicting surgical outcome is needed to optimize patient selection. METHODS: In this retrospective multicenter study, GPi-DBS outcome of 8 patients with DYT6, 9 with DYT1, and 38 with isolated dystonia without known monogenic cause (non-DYT) was assessed at early (1-16 months) and late (22-92 months) follow-up using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) scores. RESULTS: At early follow-up, mean reduction of dystonia severity was greater in patients with DYT1 (BFMDRS score: -60%) and non-DYT dystonia (-52%) than in patients with DYT6 dystonia (-32%; p = 0.046). Accordingly, the rate of responders was considerably lower in the latter group (57% vs >90%; p = 0.017). At late follow-up, however, GPi-DBS resulted in comparable improvement in all 3 groups (DYT6, -42%; DYT1, -44; non-DYT, -61%). Additional DBS of the same or another brain target was performed in 3 of 8 patients with DYT6 dystonia with varying results. Regardless of the genotype, patients with a shorter duration from onset of dystonia to surgery had better control of dystonia postoperatively. CONCLUSIONS: Long-term GPi-DBS is effective in patients with DYT6, DYT1, and non-DYT dystonia. However, the effect of DBS appears to be less predictable in patients with DYT6, suggesting that pre-DBS genetic testing and counseling for known dystonia gene mutations may be indicated. GPi-DBS should probably be considered earlier in the disease course. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that long-term GPi-DBS improves dystonia in patients with DYT1, DYT6, and non-DYT dystonia.
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