Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia

2007 ◽  
Vol 14 (6) ◽  
pp. 659-662 ◽  
Author(s):  
K. Szczaluba ◽  
M. Jurek ◽  
M. Milewski ◽  
A. Friedman ◽  
B. Kadziolka ◽  
...  
2012 ◽  
Vol 323 (1-2) ◽  
pp. 228-231 ◽  
Author(s):  
Yongping Chen ◽  
Ke Chen ◽  
Jean-Marc Burgunder ◽  
Wei Song ◽  
Rui Huang ◽  
...  

2011 ◽  
Vol 10 (12) ◽  
pp. 1074-1085 ◽  
Author(s):  
Julie Phukan ◽  
Alberto Albanese ◽  
Thomas Gasser ◽  
Thomas Warner

2021 ◽  
Author(s):  
Gabriela Coutinho Amorim Carneiro ◽  
Deborah Calado Coelho ◽  
Suzana Bastos Batista

Background: Deep Brain Stimulation (DBS) is a neurosurgical technique widely used for the treatment of several pathologies, such as Parkinson’s Disease and dystonias. Dystonias, primary or secondary, have several determining factors, among which we can mention genetic mutations, that, generally, do not respond satisfactorily to drug treatments. The difficult control of dystonias makes its management complex, since they are progressive, and, as a consequence, surgical options are often necessary. Objectives: To identify the impact of the use of DBS on the prognosis of children with primary dystonia. Methods: The present work consists of an integrative literature review, in which a careful search was carried out from databases available on the internet, such as Google Scholar, MedScape, Scielo and PubMed, using the following keywords combined in pairs: deep brain stimulation, pediatrics and primary dystonia. The research was carried out in English and Portuguese and, at the end, 10 articles published between the years 2017 and 2021 were selected. Results: Through analysis, it was observed that DBS proved to be an excellent therapy, with good results, especially for patients with primary dystonia, who were more susceptible to showing improvements in motor symptoms. Of these patients, those who have a mutation in the DYT1 gene seemed to respond better when it comes to disabling symptoms, as well as those who have known genetic etiologies. Conclusions: Although there is a limited number of studies related to the pediatric population, the use of DBS for dystonias, especially primary ones, seems to be an excellent therapeutic option for patients refractory to drug therapy. In any case, studies aimed at this group are still necessary in order to enrich and support the current evidence.


2006 ◽  
Vol 114 (3) ◽  
pp. 210-215 ◽  
Author(s):  
T. Naiya ◽  
A. Biswas ◽  
R. Neogi ◽  
S. Datta ◽  
A. K. Misra ◽  
...  
Keyword(s):  

2018 ◽  
Vol 76 (12) ◽  
pp. 821-826
Author(s):  
Torben Cavalcante Bezerra ◽  
Nathália Novaretti ◽  
Ana Luiza Nunes Cunha ◽  
Márcio Alexandre Pena Pereira ◽  
Daniel Sabino de Oliveira ◽  
...  

ABSTRACT Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.


2001 ◽  
Vol 120 (5) ◽  
pp. A234-A234
Author(s):  
R HILSDEN ◽  
M VERHOEF ◽  
A BEST ◽  
R ENNS

2020 ◽  
Vol 158 (6) ◽  
pp. S-1161
Author(s):  
Amrit K. Kamboj ◽  
Amandeep Gujral ◽  
Elida Voth ◽  
Daniel Penrice ◽  
Jessica McGoldrick ◽  
...  

2005 ◽  
Vol 173 (4S) ◽  
pp. 28-28 ◽  
Author(s):  
J. Quentin Clemens ◽  
Richard T. Meenan ◽  
Maureen C. O'Keeffe Rosetti ◽  
Sara Y. Gao ◽  
Elizabeth A. Calhoun

2006 ◽  
Vol 175 (4S) ◽  
pp. 32-33
Author(s):  
Shaun W.H. Lee ◽  
Phaik Yeong Cheah ◽  
Men Long Liong ◽  
Kah Hay Yuen ◽  
Anthony J. Schaeffer ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document