title: Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.affiliation: 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.
authors.forename: Daniel
authors.initials: D
authors.lastname: Weiss
authors.affiliation: 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.
authors.forename: Carina
authors.initials: C
authors.lastname: Mielke
authors.affiliation: 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.
authors.forename: Tobias
authors.initials: T
authors.lastname: Wächter
authors.affiliation: Department of Neuroradiology, Tübingen, Germany.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Bender
authors.affiliation: Department of Neurology, County Hospitals of Altötting-Burghausen, Altötting, Germany.
authors.forename: Rajka M
authors.initials: RM
authors.lastname: Liscic
authors.affiliation: 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.
authors.forename: Marlieke
authors.initials: M
authors.lastname: Scholten
authors.affiliation: Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Division of Functional and Restorative Neurosurgery, Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
authors.forename: Georgios
authors.initials: G
authors.lastname: Naros
authors.affiliation: Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Department of Psychiatry and Psychotherapy, Neurophysiology & Interventional Neuropsychiatry, University of Tübingen, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Plewnia
authors.affiliation: Werner Reichardt Centre for Integrative Neuroscience, Tübingen, Germany; Division of Functional and Restorative Neurosurgery, Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
authors.forename: Alireza
authors.initials: A
authors.lastname: Gharabaghi
authors.affiliation: 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.
authors.forename: Rejko
authors.initials: R
authors.lastname: Krüger
mesh_terms: D000368:Aged; D001259:Ataxia / Q000523:psychology / Q000628:therapy*; D046690:Deep Brain Stimulation / Q000379:methods*; D005600:Fragile X Syndrome / Q000523:psychology / Q000628:therapy*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology; D013997:Time Factors; D016896:Treatment Outcome; D014202:Tremor / Q000523:psychology / Q000628:therapy*; D020651:Ventral Thalamic Nuclei / Q000502:physiology*
keywords: Deep brain stimulation (DBS); Fragile X-associated tremor/ataxia syndrome; Gait; Kinematic analysis; Ventral intermedial thalamus (Vim)