Models of dystonia: an update
•Dystonia is a frequent movement disorder.•DYT1 is the most common form of inherited dystonias.•Multiple animal models of DYT1 dystonia have been generated.•A complex combination of distinct signalling pathways is modulated by torsinA.•No specific pharmacological treatment is available for dystonia....
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| Published in: | Journal of neuroscience methods Vol. 339; p. 108728 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Netherlands
Elsevier B.V
01-06-2020
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | •Dystonia is a frequent movement disorder.•DYT1 is the most common form of inherited dystonias.•Multiple animal models of DYT1 dystonia have been generated.•A complex combination of distinct signalling pathways is modulated by torsinA.•No specific pharmacological treatment is available for dystonia.
Although dystonia represents the third most common movement disorder, its pathophysiology remains still poorly understood. In the past two decades, multiple models have been generated, improving our knowledge on the molecular and cellular bases of this heterogeneous group of movement disorders. In this short survey, we will focus on recently generated novel models of DYT1 dystonia, the most common form of genetic, “isolated” dystonia. These models clearly indicate the existence of multiple signaling pathways affected by the protein mutation causative of DYT1 dystonia, torsinA, paving the way for potentially multiple, novel targets for pharmacological intervention. |
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| Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
| ISSN: | 0165-0270 1872-678X |
| DOI: | 10.1016/j.jneumeth.2020.108728 |