Daniel Weiss1, Carina Mielke2, Tobias Wächter3, Benjamin Bender4, Rajka M Liscic5, Marlieke Scholten2, Georgios Naros6, Christian Plewnia7, Alireza Gharabaghi6, Rejko Krüger8. 1. German Centre of Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany. Electronic address: daniel.weiss@uni-tuebingen.de. 2. German Centre of Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany. 3. German Centre of Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Department of Neurology, Centre for Rehabilitation, Bad Goeggingen, Germany. 4. Department of Neuroradiology, Tübingen, Germany. 5. Department of Neurology, County Hospitals of Altötting-Burghausen, Altötting, Germany. 6. Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Division of Functional and Restorative Neurosurgery, Department of Neurosurgery, University of Tübingen, Tübingen, Germany. 7. Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Department of Psychiatry and Psychotherapy, Neurophysiology & Interventional Neuropsychiatry, University of Tübingen, Germany. 8. German Centre of Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department for Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Clinical and Experimental Neuroscience, Luxembourg Center for Systems Biomedicine (LCSB), University of Luxembourg and Centre Hospitalier de Luxembourg (CHL), Luxembourg. Electronic address: rejko.krueger@uni.lu.
Abstract
INTRODUCTION: Fragile X-associated tremor/ataxia syndrome (FXTAS) presents as complex movement disorder including tremor and cerebellar ataxia. The efficacy and safety of deep brain stimulation of the nucleus ventralis intermedius of the thalamus in atypical tremor syndromes like FXTAS remains to be determined. METHODS: Here, we report the long-term outcome of three male genetically confirmed FXTAS patients treated with bilateral neurostimulation of the nucleus ventralis intermedius for up to four years. RESULTS: All patients demonstrated sustained improvement of both tremor and ataxia - the latter included improvement of intention tremor and axial tremor. Kinematic gait analyses further demonstrated a regularization of the gait cycle. Initial improvements of hand functional disability were not sustained and reached the preoperative level of impairment within one to two years from surgery. CONCLUSION: Our data on patients with a genetic cause of tremor show favorable outcome and may contribute to improved patient stratification for neurostimulation therapy in the future.
INTRODUCTION:Fragile X-associated tremor/ataxia syndrome (FXTAS) presents as complex movement disorder including tremor and cerebellar ataxia. The efficacy and safety of deep brain stimulation of the nucleus ventralis intermedius of the thalamus in atypical tremor syndromes like FXTAS remains to be determined. METHODS: Here, we report the long-term outcome of three male genetically confirmed FXTAS patients treated with bilateral neurostimulation of the nucleus ventralis intermedius for up to four years. RESULTS: All patients demonstrated sustained improvement of both tremor and ataxia - the latter included improvement of intention tremor and axial tremor. Kinematic gait analyses further demonstrated a regularization of the gait cycle. Initial improvements of hand functional disability were not sustained and reached the preoperative level of impairment within one to two years from surgery. CONCLUSION: Our data on patients with a genetic cause of tremor show favorable outcome and may contribute to improved patient stratification for neurostimulation therapy in the future.
Authors: Carlo Alberto Artusi; Ashar Farooqi; Alberto Romagnolo; Luca Marsili; Roberta Balestrino; Leonard L Sokol; Lily L Wang; Maurizio Zibetti; Andrew P Duker; George T Mandybur; Leonardo Lopiano; Aristide Merola Journal: J Neurol Date: 2018-03-06 Impact factor: 4.849
Authors: Piotr Alster; Dariusz M Koziorowski; Mirosław Za Bek; Sebastian Dzierzȩcki; Jacek Ma Dry; Karolina Duszyńska-Wa S; Hanna Grygarowicz; Justyna Zielonko; Leszek Królicki; Andrzej Friedman Journal: Front Neurol Date: 2018-06-27 Impact factor: 4.003