Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients

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

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.


2011 ◽  
Vol 122 ◽  
pp. S91
Author(s):  
S. Lalli ◽  
S. Piacentini ◽  
A. Franzini ◽  
G. Messina ◽  
F. Ferrè ◽  
...  

Author(s):  
Lindsay Niccolai ◽  
Stephen L. Aita ◽  
Harrison C. Walker ◽  
Victor A. Del Bene ◽  
Adam Gerstenecker ◽  
...  

2021 ◽  
pp. 1-12
Author(s):  
Xi Bai ◽  
Peter Vajkoczy ◽  
Katharina Faust

<b><i>Objective:</i></b> The pathophysiology of dystonia is poorly understood. As opposed to secondary forms of dystonia, primary dystonia has long been believed to lack any neuroanatomical substrate. During trajectory planning for DBS, however, conspicuous T2-hyperinstensive signal alterations (SA) were registered within the target region, even in young patients, where ischemia is rare. <b><i>Methods:</i></b> Fifty MRIs of primary dystonia patients scheduled for DBS were analyzed. Total basal ganglia (BG) volumes, as well as proportionate SA volumes, were measured and compared to 50 age-matched control patients. <b><i>Results:</i></b> There was a 10-fold preponderance of percentaged SA within the globus pallidus (GP) in dystonia patients. The greatest disparity was in young patients &#x3c;25 years. Also, total BG volume differences were observed with larger GP and markedly smaller putamen and caudate in the dystonia group. <b><i>Conclusions:</i></b> BG morphology in primary dystonia differed from a control population. Volume reductions of the putamen and caudate may reflect functional degeneration, while volume increases of the GP may indicate overactivity. T2-hyperintensive SA in the GP of young primary dystonia patients, where microvascular lesions are highly unlikely, are striking. Their pathogenic role remains unclear.


Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 105-106 ◽  
Author(s):  
Takeshi Ikeuchi ◽  
Yoshiko Nomura ◽  
Masaya Segawa ◽  
Laurie Ozelius ◽  
Takayoshi Shimohata ◽  
...  

Author(s):  
X. A. Vasques ◽  
L. Cif ◽  
B. Biolsi ◽  
P. Coubes
Keyword(s):  

Author(s):  
R. Saunders-Pullman ◽  
M. San Luciano

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