TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation

2017 ◽  
Vol 376 ◽  
pp. 42-43 ◽  
Author(s):  
Abhimanyu Mahajan ◽  
Christos Sidiropoulos
2014 ◽  
Vol 20 (1) ◽  
pp. 131-133 ◽  
Author(s):  
Malgorzata Dec ◽  
Marcin Tutaj ◽  
Monika Rudzińska ◽  
Andrzej Szczudlik ◽  
Henryk Koziara ◽  
...  

2020 ◽  
Vol 78 (9) ◽  
pp. 586-592
Author(s):  
Clarice LISTIK ◽  
Eduardo LISTIK ◽  
Rubens Gisbert CURY ◽  
Egberto Reis BARBOSA ◽  
Manoel Jacobsen TEIXEIRA ◽  
...  

ABSTRACT Background: Dystonia is a heterogeneous disorder that, when refractory to medical treatment, may have a favorable response to deep brain stimulation (DBS). A practical way to have an overview of a research domain is through a bibliometric analysis, as it makes it more accessible for researchers and others outside the field to have an idea of its directions and needs. Objective: To analyze the 100 most cited articles in the use of DBS for dystonia treatment in the last 30 years. Methods: The research protocol was performed in June 2019 in Elsevier’s Scopus database, by retrieving the most cited articles regarding DBS in dystonia. We analyzed authors, year of publication, country, affiliation, and targets of DBS. Results: Articles are mainly published in Movement Disorders (19%), Journal of Neurosurgery (9%), and Neurology (9%). European countries offer significant contributions (57% of our sample). France (192.5 citations/paper) and Germany (144.1 citations/paper) have the highest citation rates of all countries. The United States contributes with 31% of the articles, with 129.8 citations/paper. The publications are focused on General outcomes (46%), followed by Long-term outcomes (12.5%), and Complications (11%), and the leading type of dystonia researched is idiopathic or inherited, isolated, segmental or generalized dystonia, with 27% of articles and 204.3 citations/paper. Conclusions: DBS in dystonia research is mainly published in a handful of scientific journals and focused on the outcomes of the surgery in idiopathic or inherited, isolated, segmental or generalized dystonia, and with globus pallidus internus as the main DBS target.


2020 ◽  
pp. 105-108
Author(s):  
Mariana Moscovich

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a safe and long-term effective treatment for medication-refractory dystonia. However, complications and side effects may occur. Freezing of gait (FOG) is a rare phenomenon in patients with dystonia, although very frequently this complication is observed in patients with Parkinson disease (PD). FOG can be disabling and may severely impair quality of life, even when episodic. This chapter reports on a case of a 49-year-old left-handed man presenting with FOG, impairment in balance, and walking difficulty. These issues emerged 3 years after successful bilateral GPi DBS for primary generalized dystonia.


2013 ◽  
Vol 28 (10) ◽  
pp. 1431-1434 ◽  
Author(s):  
Tyler Cheung ◽  
Cen Zhang ◽  
Joseph Rudolph ◽  
Ron L. Alterman ◽  
Michele Tagliati

2020 ◽  
Vol 8 (2) ◽  
pp. 37-43
Author(s):  
Warren A. Marks ◽  
Stephanie Acord ◽  
Laurie Bailey ◽  
John Honeycutt

2020 ◽  
Vol 29 (4) ◽  
pp. 557-573
Author(s):  
KATRINA A. MUÑOZ ◽  
JENNIFER BLUMENTHAL-BARBY ◽  
ERIC A. STORCH ◽  
LAURA TORGERSON ◽  
GABRIEL LÁZARO-MUÑOZ

AbstractDystonia is a movement disorder that can have a debilitating impact on motor functions and quality of life. There are 250,000 cases in the United States, most with childhood onset. Due to the limited effectiveness and side effects of available treatments, pediatric deep brain stimulation (pDBS) has emerged as an intervention for refractory dystonia. However, there is limited clinical and neuroethics research in this area of clinical practice. This paper examines whether it is ethically justified to offer pDBS to children with refractory dystonia. Given the favorable risk-benefit profile, it is concluded that offering pDBS is ethically justified for certain etiologies of dystonia, but it is less clear for others. In addition, various ethical and policy concerns are discussed, which need to be addressed to optimize the practice of offering pDBS for dystonia. Strategies are proposed to help address these concerns as pDBS continues to expand.


2008 ◽  
Vol 23 (1) ◽  
pp. 131-134 ◽  
Author(s):  
Joerg Mueller ◽  
Inger M. Skogseid ◽  
Reiner Benecke ◽  
Andreas Kupsch ◽  
Thomas Trottenberg ◽  
...  

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