Questionable role of adult-onset focal dystonia among sporadic dystonia patients

1998 ◽  
Vol 44 (6) ◽  
pp. 984-985 ◽  
Author(s):  
B. Leube ◽  
G. Auburger
Keyword(s):  
F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 67 ◽  
Author(s):  
Antonella Conte ◽  
Giovanni Defazio ◽  
Marcello Mascia ◽  
Daniele Belvisi ◽  
Patrizia Pantano ◽  
...  

Focal dystonia is a movement disorder characterized by involuntary muscle contractions that determine abnormal postures. The traditional hypothesis that the pathophysiology of focal dystonia entails a single structural dysfunction (i.e. basal ganglia) has recently come under scrutiny. The proposed network disorder model implies that focal dystonias arise from aberrant communication between various brain areas. Based on findings from animal studies, the role of the cerebellum has attracted increased interest in the last few years. Moreover, it has been increasingly reported that focal dystonias also include nonmotor disturbances, including sensory processing abnormalities, which have begun to attract attention. Current evidence from neurophysiological and neuroimaging investigations suggests that cerebellar involvement in the network and mechanisms underlying sensory abnormalities may have a role in determining the clinical heterogeneity of focal dystonias.


F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 67
Author(s):  
Antonella Conte ◽  
Giovanni Defazio ◽  
Marcello Mascia ◽  
Daniele Belvisi ◽  
Patrizia Pantano ◽  
...  

Focal dystonia is a movement disorder characterized by involuntary muscle contractions that determine abnormal postures. The traditional hypothesis that the pathophysiology of focal dystonia entails a single structural dysfunction (i.e. basal ganglia) has recently come under scrutiny. The proposed network disorder model implies that focal dystonias arise from aberrant communication between various brain areas. Based on findings from animal studies, the role of the cerebellum has attracted increased interest in the last few years. Moreover, it has been increasingly reported that focal dystonias also include nonmotor disturbances, including sensory processing abnormalities, which have begun to attract attention. Current evidence from neurophysiological and neuroimaging investigations suggests that cerebellar involvement in the network and mechanisms underlying sensory abnormalities may have a role in determining the clinical heterogeneity of focal dystonias.


2014 ◽  
Vol 76 (6) ◽  
pp. 379-383 ◽  
Author(s):  
Melissa A. Hicks ◽  
Rebecca J. Cline ◽  
Angela M. Trepanier

An understanding of how genomics information, including information about risk for common, multifactorial disease, can be used to promote personal health (personalized medicine) is becoming increasingly important for the American public. We undertook a quantitative content analysis of commonly used high school textbooks to assess how frequently the genetic basis of common multifactorial diseases was discussed compared with the “classic” chromosomal–single gene disorders historically used to teach the concepts of genetics and heredity. We also analyzed the types of conditions or traits that were discussed. We identified 3957 sentences across 11 textbooks that addressed multifactorial and “classic” genetic disorders. “Classic” gene disorders were discussed relatively more frequently than multifactorial diseases, as was their genetic basis, even after we enriched the sample to include five adult-onset conditions common in the general population. Discussions of the genetic or hereditary components of multifactorial diseases were limited, as were discussions of the environmental components of these conditions. Adult-onset multifactorial diseases are far more common in the population than chromosomal or single-gene disorders; many are potentially preventable or modifiable. As such, they are targets for personalized medical approaches. The limited discussion in biology textbooks of the genetic basis of multifactorial conditions and the role of environment in modifying genetic risk may limit the public’s understanding and use of personalized medicine.


2020 ◽  
Vol 53 (3) ◽  
pp. 492-499
Author(s):  
Ayşegül Tetik ◽  
Bahar Uncu Ulu ◽  
Mehmet Bakırtaş ◽  
Tuğçe Nur Yiğenoğlu ◽  
Jale Yıldız ◽  
...  

2011 ◽  
Vol 31 (3) ◽  
pp. 183-190 ◽  
Author(s):  
Neha Goel ◽  
Vinod Kumar ◽  
Anisha Seth ◽  
Usha Kaul Raina ◽  
Basudeb Ghosh

2019 ◽  
Vol 53 ◽  
pp. 140-150 ◽  
Author(s):  
Murali K. Yanda ◽  
Qiangni Liu ◽  
Valeriu Cebotaru ◽  
William B. Guggino ◽  
Liudmila Cebotaru

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