Literature DB >> 28160152

Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.

H A Jinnah1, Ron Alterman2, Christine Klein3, Joachim K Krauss4, Elena Moro5, Marie Vidailhet6, Robert Raike7.   

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.

Entities:  

Keywords:  Deep brain stimulation; Dystonia; Genetics; Neuromodulation

Mesh:

Year:  2017        PMID: 28160152      PMCID: PMC5357445          DOI: 10.1007/s00702-016-1656-9

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN: 0300-9564            Impact factor:   3.575


  100 in total

1.  Wilson's disease: the problem of delayed diagnosis.

Authors:  J M Walshe; M Yealland
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-08       Impact factor: 10.154

2.  Management of referred deep brain stimulation failures: a retrospective analysis from 2 movement disorders centers.

Authors:  Michael S Okun; Michele Tagliati; Michael Pourfar; Hubert H Fernandez; Ramon L Rodriguez; Ron L Alterman; Kelly D Foote
Journal:  Arch Neurol       Date:  2005-06-13

3.  Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia.

Authors:  Marie Vidailhet; Laurent Vercueil; Jean-Luc Houeto; Pierre Krystkowiak; Alim-Louis Benabid; Philippe Cornu; Christelle Lagrange; Sophie Tézenas du Montcel; Didier Dormont; Sylvie Grand; Serge Blond; Olivier Detante; Bernard Pillon; Claire Ardouin; Yves Agid; Alain Destée; Pierre Pollak
Journal:  N Engl J Med       Date:  2005-02-03       Impact factor: 91.245

4.  Dystonia in Wilson's disease.

Authors:  M Svetel; D Kozić; E Stefanova; R Semnic; N Dragasevic; V S Kostic
Journal:  Mov Disord       Date:  2001-07       Impact factor: 10.338

5.  Adult-onset primary lower limb dystonia.

Authors:  Susanne A Schneider; Mark J Edwards; Stephen E Grill; Suzanne Goldstein; Su Kanchana; Niall P Quinn; Kailash P Bhatia; Mark Hallett; Stephen G Reich
Journal:  Mov Disord       Date:  2006-06       Impact factor: 10.338

6.  Agreement among neurologists on the clinical diagnosis of dystonia at different body sites.

Authors:  G Logroscino; P Livrea; D Anaclerio; M S Aniello; G Benedetto; G Cazzato; L Giampietro; G Manobianca; M Marra; D Martino; P Pannarale; R Pulimeno; V Santamato; G Defazio
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-03       Impact factor: 10.154

7.  Protecting human subjects in neurosurgical trials: the challenge of psychogenic dystonia.

Authors:  Katrina A Bramstedt; Paul J Ford
Journal:  Contemp Clin Trials       Date:  2006-01-04       Impact factor: 2.226

8.  Microelectrode-guided implantation of deep brain stimulators into the globus pallidus internus for dystonia: techniques, electrode locations, and outcomes.

Authors:  Philip A Starr; Robert S Turner; Geoff Rau; Nadja Lindsey; Susan Heath; Monica Volz; Jill L Ostrem; William J Marks
Journal:  J Neurosurg       Date:  2006-04       Impact factor: 5.115

Review 9.  Misdiagnoses in children with dopa-responsive dystonia.

Authors:  Mohammed M S Jan
Journal:  Pediatr Neurol       Date:  2004-10       Impact factor: 3.372

10.  Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results.

Authors:  Philippe Coubes; Laura Cif; Hassan El Fertit; Simone Hemm; Nathalie Vayssiere; Stephanie Serrat; Marie Christine Picot; Sylvie Tuffery; Mireille Claustres; Bernard Echenne; Philippe Frerebeau
Journal:  J Neurosurg       Date:  2004-08       Impact factor: 5.115

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  16 in total

1.  Deep brain stimulation in pediatric dystonia: a systematic review.

Authors:  Andrew T Hale; Meredith A Monsour; John D Rolston; Robert P Naftel; Dario J Englot
Journal:  Neurosurg Rev       Date:  2018-11-05       Impact factor: 3.042

2.  Genetic Subtypes and Deep Brain Stimulation in Dystonia.

Authors:  Ron L Alterman; Aristotelis S Filippidis
Journal:  Mov Disord Clin Pract       Date:  2018-08-11

3.  Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Authors:  Michael Zech; Robert Jech; Matias Wagner; Tobias Mantel; Sylvia Boesch; Michael Nocker; Angela Jochim; Riccardo Berutti; Petra Havránková; Anna Fečíková; David Kemlink; Jan Roth; Tim M Strom; Werner Poewe; Evžen Růžička; Bernhard Haslinger; Juliane Winkelmann
Journal:  Neurogenetics       Date:  2017-08-28       Impact factor: 2.660

Review 4.  Medical and Surgical Treatments for Dystonia.

Authors:  H A Jinnah
Journal:  Neurol Clin       Date:  2020-03-02       Impact factor: 3.806

Review 5.  GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.

Authors:  Roopa Rajan; Kanwaljeet Garg; Arti Saini; Divya M Radhakrishnan; Miryam Carecchio; Binukumar Bk; Manmohan Singh; Achal K Srivastava
Journal:  Mov Disord Clin Pract       Date:  2021-12-04

Review 6.  Treatment of Dystonia: Medications, Neurotoxins, Neuromodulation, and Rehabilitation.

Authors:  Ian O Bledsoe; Aaron C Viser; Marta San Luciano
Journal:  Neurotherapeutics       Date:  2020-10-23       Impact factor: 7.620

7.  Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.

Authors:  Maria Abel; Robert Pfister; Iman Hussein; Fahd Alsalloum; Christina Onyinzo; Simon Kappl; Michael Zech; Walter Demmel; Martin Staudt; Manfred Kudernatsch; Steffen Berweck
Journal:  Front Neurol       Date:  2021-05-14       Impact factor: 4.003

8.  A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation.

Authors:  Harini Sarva; Joan Miravite; Matthew C Swan; Andres Deik; Deborah Raymond; William Lawrence Severt; Brian H Kopell
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2017-05-05

9.  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:  Laura Cif; Diane Demailly; Jean-Pierre Lin; Katy E Barwick; Mario Sa; Lucia Abela; Sony Malhotra; Wui K Chong; Dora Steel; Alba Sanchis-Juan; Adeline Ngoh; Natalie Trump; Esther Meyer; Xavier Vasques; Julia Rankin; Meredith W Allain; Carolyn D Applegate; Sanaz Attaripour Isfahani; Julien Baleine; Bettina Balint; Jennifer A Bassetti; Emma L Baple; Kailash P Bhatia; Catherine Blanchet; Lydie Burglen; Gilles Cambonie; Emilie Chan Seng; Sandra Chantot Bastaraud; Fabienne Cyprien; Christine Coubes; Vincent d'Hardemare; Asif Doja; Nathalie Dorison; Diane Doummar; Marisela E Dy-Hollins; Ellyn Farrelly; David R Fitzpatrick; Conor Fearon; Elizabeth L Fieg; Brent L Fogel; Eva B Forman; Rachel G Fox; William A Gahl; Serena Galosi; Victoria Gonzalez; Tracey D Graves; Allison Gregory; Mark Hallett; Harutomo Hasegawa; Susan J Hayflick; Ada Hamosh; Marie Hully; Sandra Jansen; Suh Young Jeong; Joel B Krier; Sidney Krystal; Kishore R Kumar; Chloé Laurencin; Hane Lee; Gaetan Lesca; Laurence Lion François; Timothy Lynch; Neil Mahant; Julian A Martinez-Agosto; Christophe Milesi; Kelly A Mills; Michel Mondain; Hugo Morales-Briceno; John R Ostergaard; Swasti Pal; Juan C Pallais; Frédérique Pavillard; Pierre-Francois Perrigault; Andrea K Petersen; Gustavo Polo; Gaetan Poulen; Tuula Rinne; Thomas Roujeau; Caleb Rogers; Agathe Roubertie; Michelle Sahagian; Elise Schaefer; Laila Selim; Richard Selway; Nutan Sharma; Rebecca Signer; Ariane G Soldatos; David A Stevenson; Fiona Stewart; Michel Tchan; Ishwar C Verma; Bert B A de Vries; Jenny L Wilson; Derek A Wong; Raghda Zaitoun; Dolly Zhen; Anna Znaczko; Russell C Dale; Claudio M de Gusmão; Jennifer Friedman; Victor S C Fung; Mary D King; Shekeeb S Mohammad; Luis Rohena; Jeff L Waugh; Camilo Toro; F Lucy Raymond; Maya Topf; Philippe Coubes; Kathleen M Gorman; Manju A Kurian
Journal:  Brain       Date:  2020-12-05       Impact factor: 13.501

10.  The Efficacy and Predictors of Using GPi-DBS to Treat Early-Onset Dystonia: An Individual Patient Analysis.

Authors:  Wenxiu Chen; Houyou Fan; Guohui Lu
Journal:  Neural Plast       Date:  2021-05-07       Impact factor: 3.599

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