Twisting mice move the dystonia field forward
Author
Summary, in English
A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic modification of Tor1a a. In this issue of the JCI, Liang et al. establish the first animal model with a dystonic motor phenotype and link torsinA hypofunction to the development of early neuropathological changes in distinct sensorimotor regions. The findings of this study will likely play an important role in elucidating the neural substrate for dystonia and should stimulate systematic neuropathological and imaging studies in carriers of TOR1A mutations.
Department/s
Publishing year
2014
Language
English
Pages
2848-2850
Publication/Series
Journal of Clinical Investigation
Volume
124
Issue
7
Full text
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Document type
Journal article (comment)
Publisher
The American Society for Clinical Investigation
Topic
- Neurosciences
Status
Published
Research group
- Translational Neuroendocrinology
- Brain Repair and Imaging in Neural Systems (BRAINS)
ISBN/ISSN/Other
- ISSN: 0021-9738