Literature DB >> 30838295

Atypical Presentation of Rapid-onset Dystonia-parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus.

Juliane Weber1, Tobias Piroth1, Michel Rijntjes1, Bernhard Jung2, Peter C Reinacher3, Cornelius Weiller1, Volker A Coenen3, Stephan Klebe1,4.   

Abstract

Entities:  

Keywords:  DYT12; bulbar symptoms; deep brain stimulation; rapid‐onset dystonia‐parkinsonism; subthalamic nucleus

Year:  2018        PMID： 30838295      PMCID： PMC6336285          DOI： 10.1002/mdc3.12605

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

Review 1.  Pathways for control of face and neck musculature by the basal ganglia and cerebellum.

Authors:  Milton Pong; Kris M Horn; Alan R Gibson
Journal:  Brain Res Rev       Date:  2007-12-07

2.  Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.

Authors:  C Kamm; W Fogel; T Wächter; K Schweitzer; D Berg; R Kruger; D Freudenstein; T Gasser
Journal:  Neurology       Date:  2008-04-15       Impact factor: 9.910

3.  A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia.

Authors:  Lisbeth Schjerling; Lena E Hjermind; Bo Jespersen; Flemming F Madsen; Jannick Brennum; Steen R Jensen; Annemette Løkkegaard; Merete Karlsborg
Journal:  J Neurosurg       Date:  2013-10-11       Impact factor: 5.115

4.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

5.  Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation.

Authors:  Angela Deutschländer; Friedrich Asmus; Thomas Gasser; Ulrich Steude; Kai Bötzel
Journal:  Mov Disord       Date:  2005-02       Impact factor: 10.338

6.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

7.  Rapid-onset dystonia-parkinsonism.

Authors:  W B Dobyns; L J Ozelius; P L Kramer; A Brashear; M R Farlow; T R Perry; L E Walsh; E J Kasarskis; I J Butler; X O Breakefield
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910

8.  Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism.

Authors:  Rachel Fremont; D Paola Calderon; Sara Maleki; Kamran Khodakhah
Journal:  J Neurosci       Date:  2014-08-27       Impact factor: 6.167

9.  Pallidal deep brain stimulation in patients with primary generalised or segmental dystonia: 5-year follow-up of a randomised trial.

Authors:  Jens Volkmann; Alexander Wolters; Andreas Kupsch; Jörg Müller; Andrea A Kühn; Gerd-Helge Schneider; Werner Poewe; Sascha Hering; Wilhelm Eisner; Jan-Uwe Müller; Günther Deuschl; Marcus O Pinsker; Inger-Marie Skogseid; Geir Ketil Roeste; Martin Krause; Volker Tronnier; Alfons Schnitzler; Jürgen Voges; Guido Nikkhah; Jan Vesper; Joseph Classen; Markus Naumann; Reiner Benecke
Journal:  Lancet Neurol       Date:  2012-11-01       Impact factor: 44.182

10.  The neural substrates of rapid-onset Dystonia-Parkinsonism.

Authors:  D Paola Calderon; Rachel Fremont; Franca Kraenzlin; Kamran Khodakhah
Journal:  Nat Neurosci       Date:  2011-02-06       Impact factor: 24.884
  10 in total
  2 in total

1.  Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.

Authors:  Bettina Balint; Christopher D Stephen; Vrajesh Udani; Charulata Savant Sankhla; Narendrakumar H Barad; Anthony E Lang; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2019-04-04

Review 2.  [Deep brain stimulation in neurological and psychiatric diseases].

Authors:  Stephan Klebe; Volker Coenen
Journal:  Nervenarzt       Date:  2021-02-25       Impact factor: 1.214
  2 in total

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